Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227279 | SCV001399631 | uncertain significance | Desbuquois dysplasia 1 | 2019-08-18 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect XYLT1 protein function (PMID: 28462984). This variant has been observed to segregate with Desbuquois dysplasia type 2 in a family (PMID: 24581741). ClinVar contains an entry for this variant (Variation ID: 127235). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 598 of the XYLT1 protein (p.Arg598Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |
OMIM | RCV000115034 | SCV000148943 | pathogenic | Desbuquois dysplasia 2 | 2014-03-06 | no assertion criteria provided | literature only |