Submissions for variant NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503724	SCV000597918	pathogenic	Cohen syndrome	2016-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000503724	SCV002182294	pathogenic	Cohen syndrome	2023-04-06	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 437257). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Phe2028Leufs*2) 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	RCV004591446	SCV005081262	likely pathogenic	not provided	2024-04-03	criteria provided, single submitter	clinical testing	Frameshift 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); Has not been previously published as pathogenic or benign to our knowledge
Counsyl	RCV000503724	SCV000789554	likely pathogenic	Cohen syndrome	2017-02-07	no assertion criteria provided	clinical testing

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