ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) (rs587779671)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788733 SCV000927954 pathogenic not provided 2018-09-26 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory,University of Washington RCV000087663 SCV000120555 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Invitae RCV000087663 SCV000937299 likely pathogenic Ehlers-Danlos syndrome, type 4 2018-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Ehlers-Danlos syndrome, vascular type (PMID: 24922459, 25758994, Invitae). ClinVar contains an entry for this variant (Variation ID: 101425). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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.
OMIM RCV000087663 SCV000039053 pathogenic Ehlers-Danlos syndrome, type 4 2000-08-03 no assertion criteria provided literature only

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