ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) (rs777379515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065403 SCV001230359 uncertain significance Fanconi anemia 2019-11-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 627 of the FANCM protein (p.Arg627Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 585139). 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: "Possibly 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.
GenomeConnect, ClinGen RCV000709951 SCV000840311 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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