ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)

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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 RCV003637229 SCV004489841 uncertain significance Fanconi anemia 2023-01-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1154 of the FANCM protein (p.Ser1154Ile).

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