ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1871-8G>T

gnomAD frequency: 0.00006  dbSNP: rs372902486
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244003 SCV000308373 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000889015 SCV001032674 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000889015 SCV001793943 likely benign not provided 2020-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487124 SCV002802850 likely benign Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 2021-11-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000244003 SCV004241613 likely benign not specified 2023-12-22 criteria provided, single submitter clinical testing Variant summary: COL9A2 c.1871-8G>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.6e-05 in 240756 control chromosomes. To our knowledge, no occurrence of c.1871-8G>T in individuals affected with Epiphyseal dysplasia, multiple, 2 and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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