ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter) (rs201823652)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544960 SCV000638374 pathogenic Nemaline myopathy 3 2016-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 220 (p.Tyr220*) of the ACTA1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ACTA1 are known to cause autosomal recessive forms of congenital myopathy (PMID: 19562689). For these reasons, this variant has been classified as Pathogenic.

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