ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.314G>T (p.Cys105Phe)

gnomAD frequency: 0.00001  dbSNP: rs955997534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222382 SCV001394479 uncertain significance Fanconi anemia 2023-03-02 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 950633). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 105 of the FANCM protein (p.Cys105Phe).
GeneDx RCV002284474 SCV002574593 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004619565 SCV005113466 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The p.C105F variant (also known as c.314G>T), located in coding exon 1 of the FANCM gene, results from a G to T substitution at nucleotide position 314. The cysteine at codon 105 is replaced by phenylalanine, an amino acid with highly dissimilar 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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