ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2355+5G>A

dbSNP: rs1555166294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593415 SCV000702114 likely pathogenic not provided 2016-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593415 SCV004295901 likely pathogenic not provided 2023-02-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 20179744). ClinVar contains an entry for this variant (Variation ID: 497538). This variant has been observed in individual(s) with Stickler syndrome (PMID: 20179744; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 35 of the COL2A1 gene. It does not directly change the encoded amino acid sequence of the COL2A1 protein. It affects a nucleotide within the consensus splice site.

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