ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.287G>A (p.Gly96Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV005250356 SCV005900615 likely pathogenic Neurohypophyseal diabetes insipidus 2024-09-06 criteria provided, single submitter clinical testing This variant is also referred to as c.1884G>A (p.Gly96Asp) in the literature. The c.287G>A (p.Gly96Asp) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. This variant has been previously reported in patients with neurohypophyseal diabetes insipidus (PMID: 14673472, 24825090). The c.287G>A (p.Gly96Asp) variant segregated within a family with neurohypophyseal diabetes insipidus (PMID: 19129716). Different amino acid changes at the same residue (p.Gly96Val) have been previously reported in individuals with neurohypophyseal diabetes insipidus (PMID: 8626836, 8706292). Functional studies indicate this variant may lead to reduced vasopressin secretion (PMID: 19129716). The c.287G>A (p.Gly96Asp) variant is absent from the latest version of the gnomAD population database and thus is presumed to be rare. Based on the available evidence, c.287G>A (p.Gly96Asp) is classified as Likely Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004757063 SCV005365519 likely pathogenic AVP-related disorder 2024-05-02 no assertion criteria provided clinical testing The AVP c.287G>A variant is predicted to result in the amino acid substitution p.Gly96Asp. This variant is also referred to as g.1884G>A in the literature. It has been reported to segregate with disease in families with neurohypophyseal diabetes insipidus (Christensen et al. 2004. PubMed ID: 14673472; Hedrich et al. 2009. PubMed ID: 19129716; Brugnara et al. 2014. PubMed ID: 24825090). In vitro experimental studies suggest this variant impacts protein function (Hedrich et al. 2009. PubMed ID: 19129716). Another nucleotide substitution affecting this amino acid (p.Gly96Val) has also been reported in individuals with neurohypophyseal diabetes insipidus (Rauch et al. 1996. PubMed ID: 8706292). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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