ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)

gnomAD frequency: 0.00001  dbSNP: rs1164720535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231569 SCV001404096 pathogenic Desbuquois dysplasia 1 2019-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in XYLT1 are known to be pathogenic (PMID: 24581741, 26601923). This variant has not been reported in the literature in individuals with XYLT1-related conditions. This sequence change creates a premature translational stop signal (p.Arg441*) in the XYLT1 gene. It is expected to result in an absent or disrupted protein product.

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