ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)

gnomAD frequency: 0.00017  dbSNP: rs139141291
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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) RCV000174138 SCV000225384 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Invitae RCV001084953 SCV001013519 benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084953 SCV001325463 uncertain significance Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002390421 SCV002705478 uncertain significance Inborn genetic diseases 2020-01-03 criteria provided, single submitter clinical testing The p.R510C variant (also known as c.1528C>T), located in coding exon 10 of the VPS13B gene, results from a C to T substitution at nucleotide position 1528. The arginine at codon 510 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species; however, cysteine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000174138 SCV004158248 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975265 SCV004786622 likely benign VPS13B-related disorder 2023-02-13 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).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001084953 SCV001432440 likely benign Cohen syndrome no assertion criteria provided clinical testing
Natera, Inc. RCV001084953 SCV001454225 benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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