ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 2019-08-18 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

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