ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.1528-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1555648288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579242 SCV000681213 likely pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The c.1528-1G>A variant in the PIEZO2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 12. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. The c.1528-1G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1528-1G>A as a likely pathogenic variant.
Undiagnosed Diseases Network, NIH RCV000625966 SCV000746564 likely pathogenic Arthrogryposis, distal, with impaired proprioception and touch 2017-12-11 criteria provided, single submitter clinical testing This splice site mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found in trans with another variant (c.5083-1G>A) in a 6-year-old female with ataxia, hypotonia, mild dysmorphic features, delayed motor development, scoliosis. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message.

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