ClinVar Miner

Submissions for variant NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg)

dbSNP: rs142588621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242486 SCV000313502 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284101 SCV000374687 likely benign Neutral lipid storage myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000284101 SCV000641124 benign Neutral lipid storage myopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706356 SCV001824026 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21170305)

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