ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2488-34_2488-3del

dbSNP: rs747907132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001051 SCV001158172 uncertain significance not specified 2019-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546609 SCV004270325 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the PIEZO1 gene. It does not directly change the encoded amino acid sequence of the PIEZO1 protein. This variant is present in population databases (rs747907132, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PIEZO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 811290). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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