ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs)

dbSNP: rs2130975687
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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 RCV001925111 SCV002173916 pathogenic Cohen syndrome 2021-12-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the VPS13B protein in which other variant(s) (p.Pro3969Leufs*41) have been determined to be pathogenic (PMID: 15141358; Invitae; external communication). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser3901Argfs*40) in the VPS13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acid(s) of the VPS13B protein.

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