ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)

gnomAD frequency: 0.00001  dbSNP: rs775175323
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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 RCV001349240 SCV001543574 uncertain significance Fanconi anemia 2020-03-01 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 serine 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 (rs775175323, ExAC 0.02%). This sequence change replaces asparagine with serine at codon 950 of the FANCM protein (p.Asn950Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine.
GeneDx RCV001773698 SCV002003183 uncertain significance not provided 2024-02-12 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
Fulgent Genetics, Fulgent Genetics RCV002476607 SCV002781339 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-05-30 criteria provided, single submitter clinical testing

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