ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile)

gnomAD frequency: 0.00016  dbSNP: rs202148391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630910 SCV000751883 uncertain significance Fanconi anemia 2022-10-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1253 of the SLX4 protein (p.Thr1253Ile). This variant is present in population databases (rs202148391, gnomAD 0.05%). 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: 526386). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003420090 SCV004115513 uncertain significance SLX4-related disorder 2023-04-17 criteria provided, single submitter clinical testing The SLX4 c.3758C>T variant is predicted to result in the amino acid substitution p.Thr1253Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3639881-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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