ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1006-9C>G

dbSNP: rs73978832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241507 SCV001410193 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-08-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not been reported in the literature in individuals with COL5A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 15 of the COL5A2 gene. It does not directly change the encoded amino acid sequence of the COL5A2 protein.

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