Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000012240 | SCV000193065 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002276542 | SCV002566489 | likely pathogenic | Connective tissue disorder | 2021-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512979 | SCV003445233 | pathogenic | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects EBP function (PMID: 10391219). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 11485). This missense change has been observed in individual(s) with chondrodysplasia punctata (PMID: 10391219, 11038443, 12503102, 12509714). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 80 of the EBP protein (p.Glu80Lys). |
OMIM | RCV000012240 | SCV000032474 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2003-01-30 | no assertion criteria provided | literature only |