ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter)

dbSNP: rs2034210482
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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 RCV001336567 SCV001529977 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 RCV002546784 SCV003252593 pathogenic not provided 2022-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1033997). 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.Glu2490*) 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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