ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.344C>T (p.Pro115Leu)

gnomAD frequency: 0.00002  dbSNP: rs748114111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277868 SCV002565097 uncertain significance Osteogenesis imperfecta 2021-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101577 SCV002946606 uncertain significance not provided 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 115 of the XYLT2 protein (p.Pro115Leu). This variant is present in population databases (rs748114111, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with XYLT2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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