ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.238G>A (p.Glu80Lys)

dbSNP: rs104894800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000012240 SCV000193065 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2013-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children 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

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