ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser)

gnomAD frequency: 0.00001  dbSNP: rs1057521756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444265 SCV000524429 uncertain significance not provided 2016-03-05 criteria provided, single submitter clinical testing The P1062S variant in the AUTS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1062S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P1062S 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 P1062S as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000444265 SCV003452018 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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