ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.1016C>T (p.Ala339Val)

gnomAD frequency: 0.00001  dbSNP: rs992236684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519447 SCV000619528 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing The A339V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A339V variant is a conservative amino acid substitution that occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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