ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3650A>C (p.His1217Pro)

dbSNP: rs762245674
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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 RCV001303686 SCV001492939 uncertain significance Fanconi anemia 2022-02-20 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. ClinVar contains an entry for this variant (Variation ID: 1006614). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs762245674, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1217 of the FANCM protein (p.His1217Pro).

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