ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del)

dbSNP: rs1553255444
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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 RCV000527348 SCV000638367 pathogenic Actin accumulation myopathy 2023-07-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACTA1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ACTA1 protein in which other variant(s) (p.Val154Leu) have been determined to be pathogenic (PMID: 25182138, 27854218; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 464124). This variant is not present in population databases (gnomAD no frequency). This variant, c.461_478del, results in the deletion of 6 amino acid(s) of the ACTA1 protein (p.Val154_Asp159del), but otherwise preserves the integrity of the reading frame.

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