ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs)

dbSNP: rs2035219369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336566 SCV001529976 pathogenic Gordon syndrome 2018-07-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003708599 SCV004490701 pathogenic not provided 2022-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1033996). This variant has not been reported in the literature in individuals affected with PIEZO2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr2092Lysfs*43) 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).

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