ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3699+6C>T

gnomAD frequency: 0.00060  dbSNP: rs147726156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227388 SCV002506324 likely benign not provided 2022-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002227388 SCV003270818 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with PIEZO1-related conditions. This variant is present in population databases (rs147726156, gnomAD 0.1%). 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. It affects a nucleotide within the consensus splice site.
Breakthrough Genomics, Breakthrough Genomics RCV002227388 SCV005219566 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV002227388 SCV005434376 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PIEZO1: BP4
PreventionGenetics, part of Exact Sciences RCV003926333 SCV004746090 likely benign PIEZO1-related disorder 2019-05-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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