ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)

gnomAD frequency: 0.00003  dbSNP: rs978512526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782623 SCV002024618 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782623 SCV004667376 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu554*) in the PIEZO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIEZO2 are known to be pathogenic (PMID: 27653382, 27843126). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIEZO2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324903). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001782623 SCV005401519 likely pathogenic not provided 2024-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004542109 SCV004776683 likely pathogenic PIEZO2-related disorder 2023-11-21 no assertion criteria provided clinical testing The PIEZO2 c.1661T>A variant is predicted to result in premature protein termination (p.Leu554*). 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. Nonsense variants in PIEZO2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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