ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)

dbSNP: rs1571892196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986565 SCV001135584 likely pathogenic Actin accumulation myopathy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000986565 SCV002228646 pathogenic Actin accumulation myopathy 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 376 of the ACTA1 protein (p.Cys376Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ACTA1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 801630). 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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