ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp)

gnomAD frequency: 0.00003  dbSNP: rs919256712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068576 SCV001233697 uncertain significance Fanconi anemia 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 1624 of the FANCM protein (p.Cys1624Trp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 861949). 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.
GeneDx RCV001772301 SCV002003103 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a control but no cases in an ovarian cancer case-control study (Dicks 2017); This variant is associated with the following publications: (PMID: 28881617)
Sema4, Sema4 RCV002258126 SCV002529864 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002505652 SCV002797539 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-15 criteria provided, single submitter clinical testing

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