ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)

gnomAD frequency: 0.00005  dbSNP: rs138798067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038907 SCV001202407 uncertain significance Fanconi anemia 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1007 of the SLX4 protein (p.Gln1007Lys). This variant is present in population databases (rs138798067, gnomAD 0.01%). This missense change has been observed in individual(s) with breast cancer (PMID: 22911665). ClinVar contains an entry for this variant (Variation ID: 837545). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238277 SCV002010179 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194838 SCV001364655 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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