ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.2701-25T>G (rs765079080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000018728 SCV000548999 pathogenic Ehlers-Danlos syndrome, classic type 2018-09-11 criteria provided, single submitter clinical testing This sequence change falls in intron 32 of the COL5A1 gene. It does not directly change the encoded amino acid sequence of the COL5A1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to segregate with Ehlers-Danlos syndrome (EDS) in two large multigenerational families (PMID: 9683580). ClinVar contains an entry for this variant (Variation ID: 17188). This variant is located in an intronic branch site and has been shown to lead to exon 33 skipping using cultured dermal fibroblasts (PMID: 9683580). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018728 SCV000039011 pathogenic Ehlers-Danlos syndrome, classic type 1998-08-01 no assertion criteria provided literature only

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