ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)

dbSNP: rs774357106
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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) RCV000726901 SCV000703986 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing
Counsyl RCV000592363 SCV000793961 likely pathogenic Cohen syndrome 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000592363 SCV002151405 pathogenic Cohen syndrome 2023-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile3284Asnfs*10) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 498787). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004024750 SCV004980476 pathogenic Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.9850dupA (p.I3284Nfs*10) alteration, located in exon 54 (coding exon 53) of the VPS13B gene, consists of a duplication of A at position 9850, causing a translational frameshift with a predicted alternate stop codon after 10 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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