ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)

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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 RCV002629765 SCV003522843 uncertain significance Fanconi anemia 2022-01-06 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with bone marrow failure (PMID: 30995915). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 82 of the FANCL protein (p.Ser82Arg).

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