ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala)

dbSNP: rs2143779284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968335 SCV002237580 uncertain significance Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2021-11-06 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. This variant disrupts the p.Ser145 amino acid residue in ACTG1. Other variant(s) that disrupt this residue have been observed in individuals with ACTG1-related conditions (PMID: 29196752, 29986705), which suggests that this may be a clinically significant amino acid residue. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 145 of the ACTG1 protein (p.Ser145Ala).

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