ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr)

gnomAD frequency: 0.00006  dbSNP: rs767298613
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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 RCV001892293 SCV002154941 uncertain significance Fanconi anemia 2021-09-21 criteria provided, single submitter clinical testing 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 tolerated. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs767298613, ExAC 0.05%). This sequence change replaces phenylalanine with tyrosine at codon 387 of the SLX4 protein (p.Phe387Tyr). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and tyrosine.

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