ClinVar Miner

Submissions for variant NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) (rs104894753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000264512 SCV000329775 pathogenic not provided 2016-05-16 criteria provided, single submitter clinical testing The R337X pathogenic variant in the AVPR2 gene has been reported previously in association with X-linked nephrogenic diabetes (Bichet et al., 1994; Boson et al., 2006; Boselt et al., 2012). This variant is predicted to cause loss of normal protein function through protein truncation. Functional studies indicate that cells expressing R337X have a significant decrease in cell surface expression compared to wild type (Wenkert et al., 1996). The R337X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R337X as a pathogenic variant.
OMIM RCV000011591 SCV000031823 pathogenic Nephrogenic diabetes insipidus, X-linked 1997-06-01 no assertion criteria provided literature only

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