Submissions for variant NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val)

gnomAD frequency: 0.00001  dbSNP: rs760057249

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001091694	SCV001247883	uncertain significance	not provided	2020-05-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001220473	SCV001392464	uncertain significance	Cohen syndrome	2022-09-07	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1613 of the VPS13B protein (p.Gly1613Val). This variant is present in population databases (rs760057249, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 871626). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001091694	SCV002011568	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001220473	SCV002082554	uncertain significance	Cohen syndrome	2020-11-10	no assertion criteria provided	clinical testing