ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.275G>A (p.Cys92Tyr)

dbSNP: rs121964891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003407322 SCV004114176 likely pathogenic AVP-related condition 2022-09-23 criteria provided, single submitter clinical testing The AVP c.275G>A variant is predicted to result in the amino acid substitution p.Cys92Tyr. This variant has been reported in two affected individuals from one family with familial diabetes insipidus (referred to as p.Cys61Tyr, Grant et al 1998. PubMed ID: 9814475). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Different variants affecting the same amino acid (p.Cys92Ser, p.Cys92Gly, and pCys92Trp) have also been reported in association with neurohypophyseal diabetes insipidus (Human Gene Mutation Database; http://www.hgmd.cf.ac.uk/). In summary, this variant is interpreted as likely pathogenic.
OMIM RCV000013001 SCV000033246 pathogenic Neurohypophyseal diabetes insipidus 1998-11-01 no assertion criteria provided literature only

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