Table 1 Summary of rare CLCN4 variants reported in this study and, if recurrent, in previous literature or public databases.

From: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  1. Data presented include genomic coordinates, reporting laboratory assessment of pathogenicity using ACMG criteria as reported in ClinVar or determined by the authors using VARSOME prior to functional studies were conducted, demographic details, inheritance, recurrence within families, recurrence across families, including public databases as of 25th May 2022, selected in silico pathogenicity scores, frequency in gnomAD database, functional impact in Xenopus oocyte model, and if the individual has more than one genetic diagnosis (blended phenotype). Data which are supportive of pathogenicity is color-coded orange (with darker orange for most supportive data), data which are not supportive of pathogenicity are coded green. ACMG American College of Medical Genetics and Genomics, CBS cystathionine β-synthase, NA not applicable, NR not reported; N-term N terminus, GOF gain of function, LOF loss-of-function, LOVD Leiden Open Variation Database, MPS massively parallel sequencing, WT wild type. In silico scores include PolyPhen, CADD, REVEL and SpliceAI.
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