ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp)

gnomAD frequency: 0.00001  dbSNP: rs1453998176
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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 RCV000801870 SCV000941668 uncertain significance Fanconi anemia 2018-10-29 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 870 of the FANCM protein (p.Asn870Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
GeneDx RCV001766662 SCV002000929 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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