ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser) (rs886041418)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000290381 SCV000330053 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing The R68S variant in the LZTR1 gene has not been reported previously as a pathogenic variant, nor asa benign variant, to our knowledge. The R68S variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The R68S variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. This substitution occurs at a position that is conserved acrossspecies. In silico analysis predicts this variant is probably damaging to the protein structure/function.We interpret R68S as a variant of uncertain significance
GenomeConnect, ClinGen RCV000509558 SCV000606930 not provided LZTR1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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