ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.275_277del (p.Phe92del) (rs1558082053)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691025 SCV000818764 pathogenic Nemaline myopathy 3 2018-06-12 criteria provided, single submitter clinical testing This variant, c.275_277delTCT, results in the deletion of 1 amino acid of the ACTA1 protein (p.Phe92del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with congenital myopathy (PMID: 27447704), and has also been observed to be de novo in another individual with congenital myopathy in the Leiden Open-source Variation Database (PMID: 21520333). Experimental studies and prediction algorithms are not available for this variant. For these reasons, this variant has been classified as Pathogenic.

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