ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.33-1G>C (rs1057521243)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441930 SCV000521801 likely pathogenic not provided 2015-12-11 criteria provided, single submitter clinical testing A novel c.33-1 G>C variant that is likely pathogenic has been identified in the PAFAH1B1 gene. The c.33-1 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. The c.33-1 G>C splice site variant in the PAFAH1B1 gene destroys the canonical splice acceptor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of DNA/functional studies, the actual effect of the c.33-1 G>C sequence change is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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