ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys)

dbSNP: rs1180844430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322964 SCV001513861 uncertain significance Desbuquois dysplasia 1 2021-12-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1022979). 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 disruptive. 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 477 of the XYLT1 protein (p.Arg477Cys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with XYLT1-related conditions.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529171 SCV001742196 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529171 SCV001806834 uncertain significance not provided no assertion criteria provided clinical testing

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