ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr)

dbSNP: rs1193767487
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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 RCV001243401 SCV001416558 uncertain significance Fanconi anemia 2021-04-11 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: "Possibly Damaging"; 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 arginine with threonine at codon 1910 of the FANCM protein (p.Arg1910Thr). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and threonine.
Ambry Genetics RCV004619582 SCV005113472 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.5729G>C (p.R1910T) alteration is located in exon 22 (coding exon 22) of the FANCM gene. This alteration results from a G to C substitution at nucleotide position 5729, causing the arginine (R) at amino acid position 1910 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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