ClinVar Miner

Submissions for variant NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)

gnomAD frequency: 0.00535  dbSNP: rs149796549
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081899 SCV000113834 benign not specified 2013-11-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367285 SCV000470802 likely benign Cohen syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000081899 SCV000512678 benign not specified 2015-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000367285 SCV000630875 benign Cohen syndrome 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311682 SCV000846240 benign Inborn genetic diseases 2016-04-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704843 SCV005223958 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000081899 SCV005620925 benign not specified 2024-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000367285 SCV001456849 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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