ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp)

dbSNP: rs1890053191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258410 SCV002529882 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003523120 SCV004279635 uncertain significance Fanconi anemia 2023-03-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1826 of the FANCM protein (p.Glu1826Asp). This variant is not present in population databases (gnomAD no frequency). 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: 1691905). 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 disruptive. 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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