ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.287G>T (p.Gly96Val)

dbSNP: rs121964886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000012995 SCV001934559 pathogenic Neurohypophyseal diabetes insipidus 2020-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556006 SCV004298454 pathogenic not provided 2023-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 96 of the AVP protein (p.Gly96Val). 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: 8626836, 8706292, 31238300). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gly65Val. ClinVar contains an entry for this variant (Variation ID: 12211). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant disrupts the p.Gly96 amino acid residue in AVP. Other variant(s) that disrupt this residue have been observed in individuals with AVP-related conditions (PMID: 19129716, 25654069), which suggests that this may be a clinically significant amino acid residue.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000012995 SCV004698130 uncertain risk allele Neurohypophyseal diabetes insipidus criteria provided, single submitter research Potent mutations in AVP gene can lead to decreased production of Anti Diuretic hormone which leads to central Diabetes insipidus.However, the role of this particular rs121964886 variant in Diabetes insipidus is yet to be ascertained.
GeneDx RCV003556006 SCV005881999 uncertain significance not provided 2024-09-10 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: 8626836, 8706292, 31238300)
OMIM RCV000012995 SCV000033240 pathogenic Neurohypophyseal diabetes insipidus 1996-05-01 no assertion criteria provided literature only

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