ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) (rs1057519311)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000415638 SCV000494014 likely pathogenic Congenital myopathy with excess of thin filaments 2016-12-30 no assertion criteria provided clinical testing Variant c.521C>T is not reported in 1000 genome and ExAc database. But it was found to be disease causing by software like Mutation Taster, SIFT, Polyphen2.

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