ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn)

dbSNP: rs1559403678
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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 RCV002009666 SCV002299327 uncertain significance Fanconi anemia 2021-02-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 1154 of the FANCD2 protein (p.Lys1154Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. 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 with FANCD2-related conditions. This variant is not present in population databases (ExAC no frequency).

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