ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)

gnomAD frequency: 0.00001  dbSNP: rs761226343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001863073 SCV002289561 uncertain significance Fanconi anemia 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1694 of the SLX4 protein (p.Ala1694Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs761226343, ExAC 0.009%). This missense change has been observed in individual(s) with breast cancer (PMID: 22911665). ClinVar contains an entry for this variant (Variation ID: 929617). 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. 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 RCV003425982 SCV004117462 uncertain significance SLX4-related disorder 2023-08-03 criteria provided, single submitter clinical testing The SLX4 c.5081C>T variant is predicted to result in the amino acid substitution p.Ala1694Val. This variant has been reported in patient with familial breast cancer (Table S1A, Bakker et al. 2012. PubMed ID: 22911665). This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3633170-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Leiden Open Variation Database RCV001194868 SCV001364705 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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