ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1566G>T (p.Gln522His)

gnomAD frequency: 0.00001  dbSNP: rs763980494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052301 SCV001216503 uncertain significance Fanconi anemia 2023-06-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 848526). 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: "Possibly Damaging"; Align-GVGD: "Not Available". The histidine 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 present in population databases (rs763980494, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 522 of the FANCM protein (p.Gln522His).
GeneDx RCV001799726 SCV002044265 uncertain significance not provided 2023-01-30 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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