ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe)

dbSNP: rs2116842824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics, MediClubGeorgia RCV001528181 SCV001739385 likely pathogenic Congenital myotonia, autosomal dominant form 2021-06-29 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 264 of the CLCN1 protein (p.Ser264Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is absent in population databases (ExAC no frequency). This variant has not been reported in the literature in affected. SIFT - deleterious, PolyPhen - Benign, Mutationtaster - Diseases causing. The parents were also tested (father affected, with milder symptoms of myotonia) and this variant was detected in father.
Labcorp Genetics (formerly Invitae), Labcorp RCV001873731 SCV002285287 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-06-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CLCN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 264 of the CLCN1 protein (p.Ser264Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine.

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