ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)

gnomAD frequency: 0.00002  dbSNP: rs763495035
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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 RCV000804844 SCV000944777 uncertain significance Fanconi anemia 2022-01-08 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, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 649821). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs763495035, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 658 of the FANCM protein (p.Arg658Gln).
Fulgent Genetics, Fulgent Genetics RCV002487719 SCV002789283 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-15 criteria provided, single submitter clinical testing

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