ClinVar Miner

Submissions for variant NM_020376.4(PNPLA2):c.758-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science,University of Waterloo RCV001376180 SCV001573231 likely pathogenic Neutral lipid storage myopathy 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice acceptor variant in gene PNPLA2 that may disrupt mRNA splicing and result in an absent or disrupted protein product. 3 similar donor variants in the same gene have been reported as pathogenic (clinvar 39867, 39865, 520846)

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