ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) (rs200360968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765163 SCV000896392 uncertain significance SPERMATOGENIC FAILURE 28; PREMATURE OVARIAN FAILURE 15 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378941 SCV000386774 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378941 SCV000547798 uncertain significance Fanconi anemia 2018-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1456 of the FANCM protein (p.Arg1456Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs200360968, ExAC 0.03%). This variant has not been reported in the literature in individuals with FANCM-related disease. ClinVar contains an entry for this variant (Variation ID: 313218). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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