Submissions for variant NM_000490.5(AVP):c.55G>A (p.Ala19Thr)

dbSNP: rs387906511

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV000012990	SCV002810003	pathogenic	Neurohypophyseal diabetes insipidus	2021-12-21	criteria provided, single submitter	clinical testing
Invitae	RCV001701565	SCV003443356	pathogenic	not provided	2024-01-29	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 19 of the AVP protein (p.Ala19Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial neurohypophyseal diabetes insipidus (PMID: 8370682, 31238300). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12206). 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	RCV000012990	SCV000033235	pathogenic	Neurohypophyseal diabetes insipidus	1999-08-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701565	SCV001932161	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701565	SCV001955639	pathogenic	not provided		no assertion criteria provided	clinical testing