ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser)

dbSNP: rs143997277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030482 SCV001193590 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001050744 SCV001214866 uncertain significance Fanconi anemia 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1311 of the FANCM protein (p.Pro1311Ser). This variant is present in population databases (rs143997277, gnomAD 0.006%). 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: 830249). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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