ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)

gnomAD frequency: 0.00001  dbSNP: rs370701337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306479 SCV000340583 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164109 SCV001326213 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001164109 SCV001414348 benign Cohen syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411160 SCV002675719 uncertain significance Inborn genetic diseases 2018-11-22 criteria provided, single submitter clinical testing The p.R2759Q variant (also known as c.8276G>A), located in coding exon 44 of the VPS13B gene, results from a G to A substitution at nucleotide position 8276. The arginine at codon 2759 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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