ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu)

gnomAD frequency: 0.00004  dbSNP: rs374056556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545382 SCV000626426 likely benign Fanconi anemia 2024-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821491 SCV002064628 uncertain significance not specified 2021-03-29 criteria provided, single submitter clinical testing DNA sequence analysis of the SLX4 gene demonstrated a sequence change, c.3782C>T, in exon 12 that results in an amino acid change, p.Pro1261Leu. This sequence change has been described in gnomAD with a frequency of 0.24% (dbSNP rs374056556) in the Latino sub-population. The p.Pro1261Leu change affects a highly conserved amino acid residue located in a domain of the SLX4 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Pro1261Leu substitution. This sequence change does not appear to have been previously described in patients with SLX4-related disorders. Due to the lack of sufficient evidences, the clinical significance of the p.Pro1261Leu change remains unknown at this time.

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