ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.690+5G>T

dbSNP: rs1576517517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234235 SCV000933923 pathogenic Ehlers-Danlos syndrome, classic type, 1 2018-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual affected with Ehlers-Danlos syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the COL5A2 gene. It does not directly change the encoded amino acid sequence of the COL5A2 protein, but it affects a nucleotide within the consensus splice site of the intron.

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