ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.140A>G (p.Glu47Gly)

gnomAD frequency: 0.00007  dbSNP: rs756402229
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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 RCV001045617 SCV001209481 uncertain significance Fanconi anemia 2023-03-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 843080). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs756402229, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 47 of the FANCM protein (p.Glu47Gly).

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