ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057516633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412236 SCV000485980 likely pathogenic Cohen syndrome 2016-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412236 SCV000630878 pathogenic Cohen syndrome 2022-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370619). This premature translational stop signal has been observed in individual(s) with Cohen syndrome (PMID: 20683995). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln1864*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111).
GeneDx RCV003325481 SCV004031799 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20683995, 27457812)

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