ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln)

gnomAD frequency: 0.00068  dbSNP: rs35102652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157327 SCV002340105 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002157327 SCV003822492 uncertain significance not provided 2020-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV005301101 SCV005957244 uncertain significance Inborn genetic diseases 2024-12-11 criteria provided, single submitter clinical testing The c.2024G>A (p.R675Q) alteration is located in exon 10 (coding exon 9) of the ACAN gene. This alteration results from a G to A substitution at nucleotide position 2024, causing the arginine (R) at amino acid position 675 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004553653 SCV004765601 likely benign ACAN-related disorder 2022-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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