ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser)

gnomAD frequency: 0.00001  dbSNP: rs1297760447
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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 RCV001864897 SCV002127148 uncertain significance Fanconi anemia 2022-12-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1360164). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1071 of the FANCM protein (p.Asn1071Ser).
Ambry Genetics RCV002547993 SCV003645614 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.3212A>G (p.N1071S) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 3212, causing the asparagine (N) at amino acid position 1071 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442925 SCV004168603 uncertain significance not provided 2023-04-04 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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