ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.292A>C (p.Thr98Pro)

dbSNP: rs754740382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817397 SCV000957953 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 98 of the MUT protein (p.Thr98Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs754740382, ExAC 0.01%). This missense change has been observed in individual(s) with clinical features of MUT-related conditions (Invitae). 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"). 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.

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