Table 2 Pathogenic (P), likely pathogenic (LP), and variants of uncertain significance (VUS) identified in the families with FPF members through the tiered approach.

From: A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice

Case ID

Family ID

TL (Percentile)

Gene

HGVS

Amino acid change

Functional effect

Zygosity

ACMG class

F8_P1

8

25-50

RTEL1

NM_001283009.2:c.3470 C > A

p.Pro1157His

Missense

Het

VUS

F12_P1

F12_P2

12

10-25 <1

RTEL1

NM_001283009.2:c.2920 C > T

p.Arg974*

Nonsense

Het

P

F13_P1

13

<10

RTEL1

NM_001283009.2:c.2920 C > T

p.Arg974*

Nonsense

Het

P

F9_P1

9

<10

RTEL1

NM_001283009.2:c.2579 C > T

p.Ser860Phe

Missense

Het

VUS-LP

F11_P1

11

10-25

SFTPA2

NM_001098668.4:c.482 G > A

p.Arg161His

Missense

Het

VUS

F1_P1

1

<1

TINF2

NM_001099274.3:c.1108 C > T

p.Pro370Ser

Missense

Het

VUS-LP

F1_P1

1

<1

RTEL1

NM_001283009.2:c.2935 C > T

p.Arg979Trp

Missense

Het

VUS-LP

F3_P1

3

<1

NAF1

NM_138386.3:c.1104 T > G

p.Tyr368*

Nonsense

Het

LP

F6_P1

6

50-75

SPDL1

NM_017785.5:c.892-2 A > G

.

Splicing

Het

VUS

F7_P1

F7_P2

7

NA

10-25

TERT

NM_198253.3:c.2885 G > A

p.Arg962His

Missense

Het

VUS

  1. VUS variants of uncertain significance, P pathogenic, VUS-LP variants of uncertain significance, likely pathogenic, LP likely pathogenic, TL telomere length, HGVS Human Genome Variation Society, Het heterozygous, ACMG American College of Medical Genetics.
  2. In the first tier, rare deleterious variants were identified in index cases using a virtual gene panel (Panel A).
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