ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.160G>C (p.Gly54Arg)

dbSNP: rs121964888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719640 SCV005325157 pathogenic not provided 2024-02-22 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: 31238300, 9467595, 32052034)
Labcorp Genetics (formerly Invitae), Labcorp RCV004719640 SCV005838045 pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 54 of the AVP protein (p.Gly54Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with familial neurohypophyseal diabetes insipidus (PMID: 11980620, 31238300). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12214). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012998 SCV000033243 pathogenic Neurohypophyseal diabetes insipidus 1998-02-01 no assertion criteria provided literature only

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