ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) (rs771875070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687158 SCV000814710 uncertain significance Fanconi anemia 2018-06-08 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 142 of the FANCM protein (p.Pro142Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs771875070, ExAC 0.02%). This variant has not been reported in the literature in individuals with FANCM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030472 SCV001193580 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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