Submissions for variant NM_006579.3(EBP):c.293C>T (p.Ser98Phe)

dbSNP: rs2147154765

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001887759	SCV002120405	pathogenic	not provided	2021-10-20	criteria provided, single submitter	clinical testing	This sequence change replaces serine with phenylalanine at codon 98 of the EBP protein (p.Ser98Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with X-linked dominant chondrodysplasia punctata (PMID: 18395876). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EBP protein function. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001887759	SCV004010935	likely pathogenic	not provided	2023-06-01	criteria provided, single submitter	clinical testing	EBP: PM2, PM5, PM6, PP4