ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)

dbSNP: rs748592740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995476 SCV001149662 pathogenic Actin accumulation myopathy 2019-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000995476 SCV003524161 uncertain significance Actin accumulation myopathy 2022-08-30 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of ACTA1-related conditions (PMID: 19562689). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 246 of the ACTA1 protein (p.Asp246Glu). This variant is also known as p.Asp244Glu. 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. 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. ClinVar contains an entry for this variant (Variation ID: 807360).
Revvity Omics, Revvity RCV003141916 SCV003822531 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing
GeneDx RCV003141916 SCV003936715 likely pathogenic not provided 2022-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 19562689)

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