ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs)

dbSNP: rs2130976129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380799 SCV001578977 pathogenic Cohen syndrome 2020-03-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the VPS13B gene (p.Arg3934Serfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acids of the VPS13B protein. This variant has not been reported in the literature in individuals with VPS13B-related conditions. This variant disrupts the C-terminus of the VPS13B protein. Other variant(s) that disrupt this region (p.Asn3954Lysfs*60) have been determined to be pathogenic (PMID: 20656880). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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