ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)

gnomAD frequency: 0.00016  dbSNP: rs150376603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287883 SCV000470806 uncertain significance Cohen syndrome 2018-01-13 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 RCV000287883 SCV001055366 benign Cohen syndrome 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000287883 SCV001460379 benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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