Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Nx |
RCV001250508 | SCV001167357 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-04 | criteria provided, single submitter | clinical testing | This is a nonconservative change that is predicted to be damaging (PP3) and has been reported in the literature only as part of a pathogenic compound allele (with c.194C>T). This variant is not present in GnomAD Exomes (PM2). Other changes at this position, p.Lys247Glu and p.Lys247Thr, have been classifed by Uniprot as disease-associated; however, p.Lys247Glu is reported as a VUS in ClinVar. |