ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2912T>C (p.Met971Thr)

gnomAD frequency: 0.00001  dbSNP: rs761061336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305717 SCV001495063 uncertain significance Saldino-Mainzer syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 971 of the IFT140 protein (p.Met971Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs761061336, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IFT140-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: "Benign"; 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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