ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser)

gnomAD frequency: 0.00004  dbSNP: rs370788512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795544 SCV000935010 uncertain significance Xanthinuria type II 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1087 of the XDH protein (p.Asn1087Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs370788512, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with XDH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002487664 SCV002791906 uncertain significance Hereditary xanthinuria type 1 2021-09-24 criteria provided, single submitter clinical testing

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