ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.324C>A (p.Thr108=)

gnomAD frequency: 0.00011  dbSNP: rs41271479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875689 SCV001018149 likely benign Actin accumulation myopathy 2025-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413700 SCV004126072 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing ACTA1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004754597 SCV005362336 uncertain significance ACTA1-related disorder 2024-09-10 no assertion criteria provided clinical testing The ACTA1 c.324C>A variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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