ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)

dbSNP: rs2544386842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003804728 SCV004697700 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003804728 SCV004607558 uncertain significance Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACTG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 328 of the ACTG1 protein (p.Lys328Arg). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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