ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1307C>T (p.Ala436Val)

gnomAD frequency: 0.00006  dbSNP: rs773539191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475173 SCV000547437 uncertain significance Fanconi anemia 2021-10-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 436 of the SLX4 protein (p.Ala436Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs773539191, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 407898). 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 valine 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.
Fulgent Genetics, Fulgent Genetics RCV002481425 SCV002794354 uncertain significance Fanconi anemia complementation group P 2021-08-18 criteria provided, single submitter clinical testing

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