Submissions for variant NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=)

gnomAD frequency: 0.00002  dbSNP: rs913138802

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768365	SCV000899084	uncertain significance	Cohen syndrome	2021-03-30	criteria provided, single submitter	clinical testing	VPS13B NM_017890 exon 42 p.Pro2517Pro (c.7551A>G): This variant has not been reported in the literature but is present in 1/24034 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs not available). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000768365	SCV003021436	likely benign	Cohen syndrome	2022-11-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892691	SCV004711823	likely benign	VPS13B-related disorder	2022-02-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).