ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg)

gnomAD frequency: 0.00001  dbSNP: rs1802432204
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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 RCV001362407 SCV001558421 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2020-08-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 glutamine with arginine at codon 185 of the CLCN1 protein (p.Gln185Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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 RCV004980369 SCV005554175 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.554A>G (p.Q185R) alteration is located in exon 4 (coding exon 4) of the CLCN1 gene. This alteration results from a A to G substitution at nucleotide position 554, causing the glutamine (Q) at amino acid position 185 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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