ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)

gnomAD frequency: 0.00135  dbSNP: rs182894280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521389 SCV000620863 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing The A67T variant in the ACAN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A67T variant is observed in 284/126674 (0.22%) alleles from individuals of European (Non-Finnish) background, in large population cohorts (Lek et al., 2016). The A67T 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A67T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000521389 SCV002451519 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing

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