ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro)

gnomAD frequency: 0.00001  dbSNP: rs562491450
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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 RCV000475374 SCV000547460 uncertain significance Fanconi anemia 2019-10-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SLX4-related disease. This sequence change replaces leucine with proline at codon 1785 of the SLX4 protein (p.Leu1785Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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