ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro)

gnomAD frequency: 0.00002  dbSNP: rs200028975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065283 SCV001230239 uncertain significance Fanconi anemia 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1312 of the FANCM protein (p.Leu1312Pro). This variant is present in population databases (rs200028975, gnomAD 0.06%). This missense change has been observed in individual(s) with breast or ovarian cancer (PMID: 29351780). ClinVar contains an entry for this variant (Variation ID: 859219). 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 proline 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.
GeneDx RCV001585969 SCV001821106 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast, ovarian, or other cancers (PMID: 28678401, 28881617, 29351780); This variant is associated with the following publications: (PMID: 29351780, 28881617, 28678401)
Fulgent Genetics, Fulgent Genetics RCV002489691 SCV002790965 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-02-03 criteria provided, single submitter clinical testing

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