ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.452C>T (p.Ala151Val)

gnomAD frequency: 0.00004  dbSNP: rs145280046
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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 RCV001317077 SCV001507722 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-08-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 151 of the CLCN1 protein (p.Ala151Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs145280046, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. 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. 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.
Ambry Genetics RCV003365324 SCV004070977 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.452C>T (p.A151V) alteration is located in exon 4 (coding exon 4) of the CLCN1 gene. This alteration results from a C to T substitution at nucleotide position 452, causing the alanine (A) at amino acid position 151 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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