ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg)

gnomAD frequency: 0.00003  dbSNP: rs556515927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891681 SCV002167184 uncertain significance Desbuquois dysplasia 1 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with XYLT1-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1397336). This variant is present in population databases (rs556515927, gnomAD 0.03%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 588 of the XYLT1 protein (p.Gln588Arg).

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