Submissions for variant NM_001851.6(COL9A1):c.166+5G>A

gnomAD frequency: 0.00005  dbSNP: rs544432669

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001242241	SCV001415312	uncertain significance	not provided	2022-10-24	criteria provided, single submitter	clinical testing	This sequence change falls in intron 3 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 (rs544432669, gnomAD 0.1%). 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: 967351). 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.
Athena Diagnostics	RCV001242241	SCV001475622	uncertain significance	not provided	2020-03-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699524	SCV001926166	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001242241	SCV001968423	likely benign	not provided		no assertion criteria provided	clinical testing