ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2747C>T (p.Ala916Val)

dbSNP: rs2151125242
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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 RCV001949719 SCV002197957 uncertain significance Fanconi anemia 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 916 of the SLX4 protein (p.Ala916Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. 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. 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.

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