ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys)

gnomAD frequency: 0.00001  dbSNP: rs776474104
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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 RCV001224292 SCV001396480 uncertain significance Fanconi anemia 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1744 of the FANCM protein (p.Glu1744Lys). This variant is present in population databases (rs776474104, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 952226). 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. 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.

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