ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) (rs376197752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501870 SCV000594744 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV000539739 SCV000626380 uncertain significance Fanconi anemia 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1762 of the FANCM protein (p.Pro1762Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs376197752, ExAC 0.07%). This variant has not been reported in the literature in individuals with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 435172). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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