ClinVar Miner

Submissions for variant NM_000942.5(PPIB):c.344-1G>T

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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 RCV001285947 SCV001472460 likely pathogenic none provided 2019-12-10 criteria provided, single submitter clinical testing The PPIB c.344-1G>T variant (rs748284900), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the general population at a low overall frequency of 0.00199% (5/251,348 alleles) in the Genome Aggregation Database. This variant abolishes the canonical splice acceptor site of intron 3, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic.

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