ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.3906+3G>T (rs786200922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578847 SCV000680714 pathogenic not provided 2017-11-03 criteria provided, single submitter clinical testing The c.3906+3G>T variant in the COL5A1 gene has been reported previously as de novo in an individual with classical Ehlers-Danlos syndrome (Nicholls et al., 1996). This splice site variant destroys the canonical splice donor site in intron 49, and functional studies demonstrate abnormal gene splicing with the loss of exon 49 (Nicholls et al., 1996). The c.3906+3G>T variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3906+3G>T as a pathogenic variant.
OMIM RCV000018723 SCV000039006 pathogenic Ehlers-Danlos syndrome, classic type 1996-11-01 no assertion criteria provided literature only

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