ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.302T>C (p.Met101Thr)

gnomAD frequency: 0.00001  dbSNP: rs750964137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234239 SCV001406874 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2019-08-13 criteria provided, single submitter clinical testing 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 C45"). This variant has not been reported in the literature in individuals with FTL-related conditions. This variant is present in population databases (rs750964137, ExAC 0.002%). This sequence change replaces methionine with threonine at codon 101 of the FTL protein (p.Met101Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. 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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