ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8486dup (p.Leu2829fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721930 SCV005327606 likely pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 37 amino acids are replaced with 32 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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