ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG

dbSNP: rs1904465031
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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 RCV002227310 SCV002506119 benign not provided 2022-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002227310 SCV003034208 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the PIEZO1 gene. It does not directly change the encoded amino acid sequence of the PIEZO1 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 1679431). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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