ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1663-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287523 SCV001474220 likely pathogenic none provided 2020-04-23 criteria provided, single submitter clinical testing The COL3A1 c.1663-1G>A variant (rs749145939), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on a single chromosome in the Genome Aggregation Database (1/251084 alleles), indicating it is not a common polymorphism. This variant abolishes the canonical splice acceptor site of intron 23, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic.

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