ClinVar Miner

Submissions for variant NM_000054.7(AVPR2):c.821T>C (p.Leu274Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004702067 SCV005201644 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant disrupts receptor function and cell-surface expression compared to wild-type constructs (PMID: 12414899); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17371330, 18726898, 12414899)

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