ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587693 SCV005076181 pathogenic Ehlers-Danlos syndrome 2024-04-15 criteria provided, single submitter clinical testing Variant summary: COL5A1 c.4830_4831dupGA (p.Ile1611ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251294 control chromosomes. To our knowledge, no occurrence of c.4830_4831dupGA in individuals affected with Ehlers-Danlos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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