ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met)

gnomAD frequency: 0.00008  dbSNP: rs574287355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497310 SCV000589743 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing The V2874M variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V2874M variant is observed in 3/16342 (0.018%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The V2874M variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V2874M as a variant of uncertain significance,

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