ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg)

dbSNP: rs1594792069
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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 RCV001047132 SCV001211068 uncertain significance Fanconi anemia 2019-01-31 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with arginine at codon 703 of the FANCM protein (p.Ile703Arg). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and arginine.
Ambry Genetics RCV003259052 SCV003968215 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.2108T>G (p.I703R) alteration is located in exon 12 (coding exon 12) of the FANCM gene. This alteration results from a T to G substitution at nucleotide position 2108, causing the isoleucine (I) at amino acid position 703 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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