ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) (rs1553255502)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560713 SCV000638361 likely pathogenic Nemaline myopathy 3 2017-06-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 66 of the ACTA1 protein (p.Ile66Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with nemaline myopathy (PMID: 12921789). It has also been reported in a family affected with autosomal dominant nemaline myopathy (PMID: 15236405). This variant is also knowns as p.Ile64Asn. Experimental studies have shown that this missense change impacts the function of the ACTA1 protein, leading to a co-polymerization defect (PMID: 15226407). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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