ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2241+6T>C

gnomAD frequency: 0.00004  dbSNP: rs374197371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402995 SCV000332212 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000402995 SCV001801334 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000402995 SCV002272332 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change falls in intron 26 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 present in population databases (rs374197371, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 281428). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002487183 SCV002781642 uncertain significance Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2021-12-30 criteria provided, single submitter clinical testing

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