ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2553+1G>A

dbSNP: rs587779664
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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 RCV000087651 SCV000283461 pathogenic Ehlers-Danlos syndrome, type 4 2015-11-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different variant affecting this nucleotide has also been reported in a patient affected with Ehlers-Danlos syndrome (PMID: 24922459), indicating that this nucleotide may be crucial for normal mRNA splicing. Truncating variants in COL3A1 are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with Ehlers-Danlos syndrome (PMID: 24922459). This sequence change affects a donor splice site in intron 36. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.
Collagen Diagnostic Laboratory, University of Washington RCV000087651 SCV000120543 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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