ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)

dbSNP: rs1573513610
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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 RCV000812808 SCV000953133 uncertain significance Fanconi anemia 2018-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCL-related disease. This sequence change replaces leucine with serine at codon 288 of the FANCL protein (p.Leu288Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.

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