ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) (rs139179946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694844 SCV000823306 uncertain significance Desbuquois dysplasia 1 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 586 of the XYLT1 protein (p.Arg586Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs139179946, ExAC 0.04%). This variant has been reported in a study of patients with type 1 diabetes (PMID: 16759312), although it is not clear from the report if this variant was observed in an affected patient or unaffected control individual. As a result, the clinical significance of this observation is uncertain. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765257 SCV000896510 uncertain significance Pseudoxanthoma elasticum; Desbuquois dysplasia 2 2018-10-31 criteria provided, single submitter clinical testing

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