Submissions for variant NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)

gnomAD frequency: 0.00041  dbSNP: rs140709787

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001247141	SCV001420548	likely benign	Cohen syndrome	2024-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001751502	SCV001996759	uncertain significance	not provided	2022-12-08	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics	RCV001247141	SCV002816339	uncertain significance	Cohen syndrome	2021-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003938578	SCV004749114	likely benign	VPS13B-related disorder	2023-02-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV004679041	SCV005174709	likely benign	Inborn genetic diseases	2024-06-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001247141	SCV002079452	uncertain significance	Cohen syndrome	2020-01-24	no assertion criteria provided	clinical testing