ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)

gnomAD frequency: 0.00001  dbSNP: rs188729744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044919 SCV001208743 uncertain significance Fanconi anemia 2019-12-23 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is present in population databases (rs188729744, ExAC 0.004%). This sequence change replaces serine with arginine at codon 37 of the SLX4 protein (p.Ser37Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002481916 SCV002794278 uncertain significance Fanconi anemia complementation group P 2022-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031376 SCV004953275 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.111C>A (p.S37R) alteration is located in exon 2 (coding exon 1) of the SLX4 gene. This alteration results from a C to A substitution at nucleotide position 111, causing the serine (S) at amino acid position 37 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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