ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1666-10T>G

gnomAD frequency: 0.00006  dbSNP: rs762825632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055524 SCV001219922 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768827 SCV005381098 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing Variant summary: COL9A1 c.1666-10T>G alters a conserved nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Two predict the variant weakens a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.6e-05 in 251388 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in COL9A1 causing COL9A1-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1666-10T>G in individuals affected with COL9A1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 851181). Based on the evidence outlined above, the variant was classified as uncertain significance.

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