ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr)

gnomAD frequency: 0.00001  dbSNP: rs764204806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769139 SCV002003246 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with ovarian cancer (Dicks et al., 2017); This variant is associated with the following publications: (PMID: 28881617)
Sema4, Sema4 RCV002258307 SCV002527317 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-24 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003772032 SCV004681837 uncertain significance Fanconi anemia 2023-07-25 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: 1313188). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs764204806, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 568 of the FANCM protein (p.Ile568Thr).

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