ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.201G>T (p.Gln67His)

gnomAD frequency: 0.00001  dbSNP: rs761398438
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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 RCV001244866 SCV001418116 uncertain significance Fanconi anemia 2020-11-21 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 969503). This variant is present in population databases (rs761398438, ExAC 0.02%). This sequence change replaces glutamine with histidine at codon 67 of the FANCM protein (p.Gln67His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine.
GeneDx RCV001565869 SCV001789301 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001565869 SCV002774592 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034803 SCV004869901 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.201G>T (p.Q67H) alteration is located in exon 1 (coding exon 1) of the FANCM gene. This alteration results from a G to T substitution at nucleotide position 201, causing the glutamine (Q) at amino acid position 67 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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