ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)

gnomAD frequency: 0.00001  dbSNP: rs770155583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234862 SCV001407522 uncertain significance Fanconi anemia 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 905 of the FANCM protein (p.Glu905Val). This variant is present in population databases (rs770155583, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 961206). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002484284 SCV002799776 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166446 SCV003898724 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.E905V variant (also known as c.2714A>T), located in coding exon 14 of the FANCM gene, results from an A to T substitution at nucleotide position 2714. The glutamic acid at codon 905 is replaced by valine, an amino acid with 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.
GeneDx RCV004768956 SCV005379298 uncertain significance not provided 2023-11-06 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

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