ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3418-5C>A

gnomAD frequency: 0.00001  dbSNP: rs377392671
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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 RCV001063263 SCV001228101 uncertain significance Ehlers-Danlos syndrome, type 4 2019-04-29 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 46 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein.

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