Submissions for variant NM_004444.5(EPHB4):c.235_236del (p.Pro79fs)

dbSNP: rs2116461878

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001892749	SCV002151463	pathogenic	not provided	2022-12-23	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with EPHB4-related conditions. This sequence change creates a premature translational stop signal (p.Pro79Thrfs*38) in the EPHB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPHB4 are known to be pathogenic (PMID: 28687708). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1383632). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV004731193	SCV005340871	likely pathogenic	EPHB4-related disorder	2024-06-07	no assertion criteria provided	clinical testing	The EPHB4 c.235_236delCC variant is predicted to result in a frameshift and premature protein termination (p.Pro79Thrfs*38). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in EPHB4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.