ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg)

dbSNP: rs2102736416
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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 RCV001949383 SCV002239419 pathogenic Actin accumulation myopathy 2021-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 57 of the ACTA1 protein (p.Gly57Arg). This missense change has been observed in individual(s) with nemaline myopathy (PMID: 19562689). In at least one individual the variant was observed to be de novo. 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.

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