Submissions for variant NM_001114753.3(ENG):c.392dup (p.Val133fs)

dbSNP: rs1554810510

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002877287	SCV003241391	pathogenic	Hereditary hemorrhagic telangiectasia	2024-04-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val133Glyfs*16) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ENG-related conditions. ClinVar contains an entry for this variant (Variation ID: 2034993). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV003481341	SCV004226820	pathogenic	not provided	2022-02-08	criteria provided, single submitter	clinical testing	PP4, PM2, PVS1
PreventionGenetics, part of Exact Sciences	RCV004753584	SCV005362633	likely pathogenic	ENG-related disorder	2024-09-22	no assertion criteria provided	clinical testing	The ENG c.392dupC variant is predicted to result in a frameshift and premature protein termination (p.Val133Glyfs*16). To our knowledge, this variant has not been reported in the literature or a large population database, indicating this variant is rare. Frameshift variants in ENG are expected to be pathogenic. This variant is interpreted as likely pathogenic.