ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu)

gnomAD frequency: 0.00001  dbSNP: rs765686151
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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 RCV002035027 SCV002113472 uncertain significance Fanconi anemia 2023-03-31 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: 1348733). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs765686151, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 381 of the FANCM protein (p.Ser381Leu).

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