Submissions for variant NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)

dbSNP: rs778567340

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001046333	SCV001210230	uncertain significance	not provided	2019-01-07	criteria provided, single submitter	clinical testing	Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with ARV1-related conditions. This variant is present in population databases (rs778567340, ExAC 0.01%). This sequence change replaces cysteine with tyrosine at codon 34 of the ARV1 protein (p.Cys34Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV001655670	SCV001870328	uncertain significance	Developmental and epileptic encephalopathy, 38	2020-08-03	criteria provided, single submitter	research	ACMG codes:PM2, PP3