ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.539T>C (p.Leu180Pro) (rs1558081797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679903 SCV000807334 uncertain significance Nemaline myopathy 3 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously described in the literature, although without sufficient information to definitively classify it as disease-causing. It has been identified once in our laboratory as a de novo mutation in a 1-year-old male with congenital myopathy and hypotonia, dysmorphisms, failure to thrive, mild club foot; his monozygotic twin was similarly affected and died of pneumonia

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