ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.692dup (p.Val232fs)

dbSNP: rs797044806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624217 SCV000741565 pathogenic Inborn genetic diseases 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV003556233 SCV004297485 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val232Glyfs*54) in the XYLT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XYLT2 are known to be pathogenic (PMID: 26027496, 26987875). This variant is present in population databases (rs759761618, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with spondyloocular syndrome (PMID: 26027496). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 207977). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000190243 SCV000243767 pathogenic Spondylo-ocular syndrome 2015-06-04 no assertion criteria provided literature only

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