ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.161G>T (p.Gly54Val)

dbSNP: rs121964887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719639 SCV005325156 likely pathogenic not provided 2023-07-20 criteria provided, single submitter clinical testing 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: 10487710, 28008190, 9360520)
OMIM RCV000012997 SCV000033242 pathogenic Neurohypophyseal diabetes insipidus 1999-09-01 no assertion criteria provided literature only

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