ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)

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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 RCV002927858 SCV003262876 pathogenic Actin accumulation myopathy 2022-03-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt ACTA1 protein function. This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 307 of the ACTA1 protein (p.Met307Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ACTA1-related conditions (Invitae). In at least one individual the variant was observed to be de novo.

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