ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)

gnomAD frequency: 0.00031  dbSNP: rs144647122
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501939 SCV000597167 uncertain significance not specified 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539205 SCV000626420 uncertain significance Fanconi anemia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1123 of the SLX4 protein (p.Ser1123Tyr). This variant is present in population databases (rs144647122, gnomAD 0.05%). This missense change has been observed in individual(s) with breast cancer and/or oropharynx cancer (PMID: 22911665, 23840564, 28678401, 30613976). ClinVar contains an entry for this variant (Variation ID: 436793). 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: "Tolerated"; 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237884 SCV002010124 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000539205 SCV002529323 uncertain significance Fanconi anemia 2021-07-27 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001764495 SCV002815313 uncertain significance Fanconi anemia complementation group P 2022-04-23 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000501939 SCV001364661 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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