ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys)

dbSNP: rs1890202191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298843 SCV001487914 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1914 of the FANCM protein (p.Arg1914Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. 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: "Tolerated"; 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.
Ambry Genetics RCV004619604 SCV005113474 uncertain significance Inborn genetic diseases 2024-04-26 criteria provided, single submitter clinical testing The c.5741G>A (p.R1914K) alteration is located in exon 22 (coding exon 22) of the FANCM gene. This alteration results from a G to A substitution at nucleotide position 5741, causing the arginine (R) at amino acid position 1914 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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