ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1665+5G>T

gnomAD frequency: 0.00011  dbSNP: rs369698214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001065737 SCV000724187 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001065737 SCV001230712 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the COL9A1 gene. It does not directly change the encoded amino acid sequence of the COL9A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs369698214, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 513010). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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