ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.712del (p.Leu238fs)

dbSNP: rs1211561143
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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 RCV000820216 SCV000960917 pathogenic Actin accumulation myopathy 2022-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu238Trpfs*48) in the ACTA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACTA1 are known to be pathogenic (PMID: 19562689). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ACTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 662552). For these reasons, this variant has been classified as Pathogenic.

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