ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)

gnomAD frequency: 0.00005  dbSNP: rs770368316
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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 RCV000460926 SCV000547810 uncertain significance Fanconi anemia 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 96 of the FANCL protein (p.Lys96Asn). This variant is present in population databases (rs770368316, gnomAD 0.01%). This missense change has been observed in individual(s) with aplastic anemia (PMID: 30995915). ClinVar contains an entry for this variant (Variation ID: 408229). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FANCL protein function with a negative predictive value of 80%. 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 RCV002506121 SCV002816685 uncertain significance Fanconi anemia complementation group L 2024-02-09 criteria provided, single submitter clinical testing

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