ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.260C>T (p.Ser87Phe)

dbSNP: rs121964890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513002 SCV003443267 pathogenic not provided 2022-03-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 12216). This variant is also known as c.1857C>T, p.Ser56Phe. This missense change has been observed in individual(s) with clinical features of AVP-related conditions (PMID: 9814475). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 87 of the AVP protein (p.Ser87Phe). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013000 SCV000033245 pathogenic Neurohypophyseal diabetes insipidus 1998-11-01 no assertion criteria provided literature only

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