ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)

dbSNP: rs2503185687
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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 RCV003006107 SCV003311895 uncertain significance Fanconi anemia 2022-03-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 993 of the FANCM protein (p.Phe993Leu). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV005333427 SCV006002250 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The p.F993L variant (also known as c.2979T>G), located in coding exon 14 of the FANCM gene, results from a T to G substitution at nucleotide position 2979. The phenylalanine at codon 993 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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