ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2310C>G (p.His770Gln)

dbSNP: rs566935444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229246 SCV001401686 uncertain significance Fanconi anemia 2019-09-29 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs566935444, ExAC 0.1%). This sequence change replaces histidine with glutamine at codon 770 of the FANCM protein (p.His770Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine.

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