ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.170_174dup (p.Leu59fs)

dbSNP: rs2510473419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004527871 SCV004109952 likely pathogenic PIEZO2-related disorder 2023-03-29 criteria provided, single submitter clinical testing The PIEZO2 c.170_174dup5 variant is predicted to result in a frameshift and premature protein termination (p.Leu59Aspfs*4). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PIEZO2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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