ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.344T>C (p.Ile115Thr)

gnomAD frequency: 0.00001  dbSNP: rs1060501895
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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 RCV000460001 SCV000547807 uncertain significance Fanconi anemia 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 115 of the FANCL protein (p.Ile115Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. 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: "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.
Sema4, Sema4 RCV000460001 SCV002527280 uncertain significance Fanconi anemia 2021-12-13 criteria provided, single submitter curation

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