ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)

gnomAD frequency: 0.00001  dbSNP: rs755653940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258436 SCV002529276 uncertain significance Fanconi anemia 2021-11-12 criteria provided, single submitter curation
Invitae RCV002258436 SCV003249431 uncertain significance Fanconi anemia 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 580 of the SLX4 protein (p.Ser580Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1692001). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003289485 SCV003987500 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.1739G>A (p.S580N) alteration is located in exon 8 (coding exon 7) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 1739, causing the serine (S) at amino acid position 580 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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