ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.355-16C>G (rs767272289)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236191 SCV000293838 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing The c.355-16 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.355-16 C>G damages the natural splice acceptor site in intron 5 and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002445 SCV001160385 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-03-27 criteria provided, single submitter clinical testing

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