ClinVar Miner

Submissions for variant NM_017947.4(MOCOS):c.1850T>C (p.Met617Thr)

gnomAD frequency: 0.00001  dbSNP: rs368198282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694138 SCV000822569 uncertain significance Xanthinuria type II 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 617 of the MOCOS protein (p.Met617Thr). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 572695). This variant has not been reported in the literature in individuals affected with MOCOS-related conditions. This variant is present in population databases (rs368198282, gnomAD 0.004%).

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