Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001859473 | SCV002317529 | likely pathogenic | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 264703). This missense change has been observed in individual(s) with cardiospondylocarpofacial syndrome (PMID: 27426734). 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 glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 110 of the MAP3K7 protein (p.Gly110Cys). |
OMIM | RCV000254563 | SCV000320736 | pathogenic | Cardiospondylocarpofacial syndrome | 2022-02-04 | no assertion criteria provided | literature only |