ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) (rs587777367)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227279 SCV001399631 uncertain significance Desbuquois dysplasia 1 2019-08-19 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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 has been reported to affect XYLT1 protein function (PMID: 28462984). 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.
OMIM RCV000115034 SCV000148943 pathogenic Desbuquois dysplasia 2 2014-03-06 no assertion criteria provided literature only

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