ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)

gnomAD frequency: 0.00003  dbSNP: rs780678810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304283 SCV001493557 uncertain significance Fanconi anemia 2022-03-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1755 of the SLX4 protein (p.Ala1755Ser). This variant is present in population databases (rs780678810, gnomAD 0.009%). 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: 1007142). 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 disruptive. 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.
Genetic Services Laboratory, University of Chicago RCV001819995 SCV002068719 uncertain significance not specified 2019-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166721 SCV003878766 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.5263G>T (p.A1755S) alteration is located in exon 15 (coding exon 14) of the SLX4 gene. This alteration results from a G to T substitution at nucleotide position 5263, causing the alanine (A) at amino acid position 1755 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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