ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.247+1G>A (rs573784011)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489936 SCV000576662 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing The c.247+1 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.247+1 G>A splice site variant in the PSTPIP1 gene destroys the canonical splice donor site in intron 4. 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, no splicing variants in PSTPIP1 have been reported to date in the Human Gene Mutation Database, and their contribution to disease is uncertain (Stenson et al., 2014; Nesterovitch et al., 2011). Additionally, the c.247+1 G>A variant is observed in 25/16510 (0.1%) alleles from individuals of South Asian background, including one homozygote, in the ExAC dataset (Lek et al., 2016). In the absence of functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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