ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3816+2dup

dbSNP: rs1469787406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334963 SCV001527980 pathogenic Fibrochondrogenesis 1 2018-09-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported arising de novo in two independent patiets with Stickler syndrome [PMID 10486316, 25240749].
Labcorp Genetics (formerly Invitae), Labcorp RCV001859329 SCV002151584 pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of autosomal dominant COL11A1-related conditions (PMID: 10486316, 25240749; Invitae). In at least one individual the variant was observed to be de novo. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 50 of the COL11A1 gene. It does not directly change the encoded amino acid sequence of the COL11A1 protein. It affects a nucleotide within the consensus splice site. This variant is also known as InsT+3 IVS50. For these reasons, this variant has been classified as Pathogenic. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1032776).
GeneDx RCV001859329 SCV004028372 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Intronic splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34680973, 1683158, 25240749, 17236192, 10486316)
OMIM RCV002260151 SCV000038957 pathogenic Marshall syndrome 2007-02-01 no assertion criteria provided literature only

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