ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)

gnomAD frequency: 0.00034  dbSNP: rs138484365
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504033 SCV000597134 uncertain significance not specified 2016-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764052 SCV000895006 uncertain significance Fanconi anemia complementation group P 2022-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203560 SCV001374733 uncertain significance Fanconi anemia 2023-12-30 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 1462 of the SLX4 protein (p.Ala1462Ser). This variant is present in population databases (rs138484365, gnomAD 0.04%). 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: 436778). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine 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.
Baylor Genetics RCV000764052 SCV002096988 uncertain significance Fanconi anemia complementation group P 2022-01-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV001203560 SCV002529351 uncertain significance Fanconi anemia 2021-10-21 criteria provided, single submitter curation
Ambry Genetics RCV002524298 SCV003615531 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.4384G>T (p.A1462S) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to T substitution at nucleotide position 4384, causing the alanine (A) at amino acid position 1462 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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