ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.616+1G>A

gnomAD frequency: 0.00001  dbSNP: rs111812550
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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 RCV000541274 SCV000638371 pathogenic Actin accumulation myopathy 2017-02-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the ACTA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACTA1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with nemaline myopathy (PMID: 19562689).

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