ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr)

gnomAD frequency: 0.00001  dbSNP: rs776578234
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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 RCV001227087 SCV001399426 uncertain significance Fanconi anemia 2021-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs776578234, ExAC 0.001%). This sequence change replaces alanine with threonine at codon 1630 of the SLX4 protein (p.Ala1630Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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