ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.333+4A>G

dbSNP: rs1688041454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039328 SCV001202855 uncertain significance Ehlers-Danlos syndrome, type 4 2019-12-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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 not been reported in the literature in individuals with COL3A1-related conditions. This sequence change falls in intron 3 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV004031097 SCV003623087 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-06-30 criteria provided, single submitter clinical testing The c.333+4A>G intronic alteration consists of a A to G substitution nucleotides after coding exon 3 in the COL3A1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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