ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser)

gnomAD frequency: 0.00003  dbSNP: rs201113768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638244 SCV000759730 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-04-22 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 212 of the CLCN1 protein (p.Phe212Ser). This variant is present in population databases (rs201113768, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of CLCN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 531750). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLCN1 protein function. 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.
Revvity Omics, Revvity RCV003144411 SCV003830775 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing

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