Submissions for variant NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)

dbSNP: rs63750653

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000001720	SCV004569777	uncertain significance	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2024-01-22	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 148 of the CHMP2B protein (p.Asp148Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with frontotemporal dementia (PMID: 16041373). ClinVar contains an entry for this variant (Variation ID: 1653). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CHMP2B function (PMID: 17956895). 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.
OMIM	RCV000001720	SCV000021876	pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2005-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000001720	SCV000041244	not provided	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7		no assertion provided	literature only
VIB Department of Molecular Genetics, University of Antwerp	RCV000084275	SCV000116411	not provided	not provided		no assertion provided	not provided