ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)

dbSNP: rs1602883262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803063 SCV000942921 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 426 of the OFD1 protein (p.Met426Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with OFD1-related disease. 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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