ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) (rs150547487)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085760 SCV000558639 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000767083 SCV000568865 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing The Y546C variant in the SLX4 gene has been reported previously in an individual with breast or ovarian cancer and a family history compatible with a hereditary cancer syndrome (de Garibay et al., 2013). The Y546C variant is observed in 128/6308 (2.0%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The Y546C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y546C as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000480800 SCV000597146 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000480800 SCV000605213 uncertain significance not specified 2017-04-11 criteria provided, single submitter clinical testing
Mendelics RCV000989501 SCV001139914 benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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