ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)

gnomAD frequency: 0.00005  dbSNP: rs186036075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001966948 SCV002250201 uncertain significance Fanconi anemia 2021-02-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1234 of the SLX4 protein (p.Ala1234Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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 (rs186036075, ExAC 0.01%).
Sema4, Sema4 RCV001966948 SCV002529330 uncertain significance Fanconi anemia 2022-02-27 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002492188 SCV002790882 uncertain significance Fanconi anemia complementation group P 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375504 SCV004094015 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.3701C>T (p.A1234V) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 3701, causing the alanine (A) at amino acid position 1234 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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