ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)

dbSNP: rs878854374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research, Children's National Medical Center RCV000228987 SCV000265785 likely pathogenic Actin accumulation myopathy 2015-12-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000228987 SCV003524159 uncertain significance Actin accumulation myopathy 2023-03-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 308 of the ACTA1 protein (p.Tyr308Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant ACTA1-related conditions (PMID: 25987458, 27854218, 32222963). ClinVar contains an entry for this variant (Variation ID: 224672). 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 ACTA1 protein function. 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.
Revvity Omics, Revvity RCV003144161 SCV003822520 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing

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