ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1680+1G>A

dbSNP: rs1057524696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851925 SCV002126903 pathogenic not provided 2023-04-30 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with autosomal dominant Stickler syndrome (PMID: 10706362). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 25 of the COL2A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is also known as intron 25+1G>A. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 10706362). ClinVar contains an entry for this variant (Variation ID: 17382).
OMIM RCV000018925 SCV000039210 pathogenic Stickler syndrome type 1 2000-02-28 no assertion criteria provided literature only

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