ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)

gnomAD frequency: 0.00005  dbSNP: rs565347397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228921 SCV001401349 uncertain significance Fanconi anemia 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 809 of the FANCM protein (p.Phe809Cys). This variant is present in population databases (rs565347397, gnomAD 0.008%). 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: 956167). 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"). 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.
Fulgent Genetics, Fulgent Genetics RCV002504303 SCV002815401 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-06 criteria provided, single submitter clinical testing

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