ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1294-1G>C

dbSNP: rs1060500204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468152 SCV000541811 likely pathogenic Ehlers-Danlos syndrome, type 4 2017-02-09 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL3A1-related disease. This sequence change affects an acceptor splice site in intron 18 of the COL3A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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