ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys)

gnomAD frequency: 0.00001  dbSNP: rs1453404140
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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 RCV001369550 SCV001565992 uncertain significance Fanconi anemia 2023-04-06 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1060162). 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 0.001%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 871 of the FANCM protein (p.Asn871Lys).
Ambry Genetics RCV004619676 SCV005113469 uncertain significance Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing The c.2613T>G (p.N871K) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a T to G substitution at nucleotide position 2613, causing the asparagine (N) at amino acid position 871 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004728682 SCV005332789 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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