ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1869+5G>T

dbSNP: rs397509376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087724 SCV000938608 pathogenic Ehlers-Danlos syndrome, type 4 2018-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this nucleotide change results in skipping of exon 27 (PMID: 9399899). This variant has been observed in the literature in an individual affected with Ehlers-Danlos syndrome (EDS) (PMID: 9399899), and also has been observed to be de novo in an individual affected with a COL3A1-related condition (Invitae). ClinVar contains an entry for this variant (Variation ID: 101485). This variant is also known as IVS27+5G>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 26 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein, but it affects a nucleotide within the consensus splice site of the intron.
Collagen Diagnostic Laboratory, University of Washington RCV000087724 SCV000120617 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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