ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)

gnomAD frequency: 0.00001  dbSNP: rs587777368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003495110 SCV004296412 pathogenic Desbuquois dysplasia 1 2023-06-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 127236). This premature translational stop signal has been observed in individual(s) with Desbuquois dysplasia type 2 (PMID: 24581741). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg147*) in the XYLT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XYLT1 are known to be pathogenic (PMID: 24581741, 26601923).
OMIM RCV000115035 SCV000148944 pathogenic Desbuquois dysplasia 2 2014-03-06 no assertion criteria provided literature only

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