ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.278-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV003761195 SCV004543797 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2024-02-14 criteria provided, single submitter clinical testing The variant c.278-1G>T has not yet been described in the literature and is not found in control groups of different ethnicities. It is located in the splice acceptor site of intron 2 and affects the 100% conserved nucleotide at position -1, so that a splicing defect can be assumed.

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