Submissions for variant NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)

dbSNP: rs761736983

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001008826	SCV001168629	pathogenic	not provided	2018-07-12	criteria provided, single submitter	clinical testing	The c.6879delT variant in the VPS13B gene has been reported previously in the homozygous state in multiple affected members of two large Pakistani families with Cohen syndrome (Rafiq et al., 2015). The c.6879delT variant causes a frameshift starting with codon Phenylalanine 2293, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Phe2293LeufsX24. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6879delT variant is observed in 1/30772 (0.003%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). We interpret c.6879delT as a pathogenic variant.
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001814256	SCV001755548	pathogenic	Abnormality of the nervous system	2021-07-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001008826	SCV004032823	pathogenic	not provided	2023-07-01	criteria provided, single submitter	clinical testing	VPS13B: PVS1, PM2
Natera, Inc.	RCV001827171	SCV002082623	pathogenic	Cohen syndrome	2020-11-02	no assertion criteria provided	clinical testing