ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)

dbSNP: rs104894545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764612 SCV004571407 pathogenic Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-05-23 criteria provided, single submitter clinical testing 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 not expected to disrupt ACTG1 protein function. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 332 of the ACTG1 protein (p.Pro332Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with deafness (PMID: 13680526). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 18317). Experimental studies have shown that this missense change affects ACTG1 function (PMID: 19419963). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019982 SCV000040280 pathogenic Autosomal dominant nonsyndromic hearing loss 20 2003-11-01 no assertion criteria provided literature only

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