ClinVar Miner

Submissions for variant NM_000054.7(AVPR2):c.359_426dup (p.Arg143delinsTrpTrpAlaCysMetProProProThrTer)

dbSNP: rs1557100580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522838 SCV000620698 pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing The c.359_426dup68 variant in the AVPR2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.359_426dup68 variant causes a frameshift starting with codon Arginine 143, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.R143WfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.359_426dup68 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.359_426dup68 as a pathogenic variant

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