ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu)

gnomAD frequency: 0.00001  dbSNP: rs755903696
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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 RCV002028861 SCV002296527 uncertain significance Fanconi anemia 2020-12-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1912 of the FANCM protein (p.Phe1912Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs755903696, ExAC 0.002%).
Ambry Genetics RCV004976139 SCV005587004 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.F1912L variant (also known as c.5736T>A), located in coding exon 22 of the FANCM gene, results from a T to A substitution at nucleotide position 5736. The phenylalanine at codon 1912 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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