ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1107+6C>T

gnomAD frequency: 0.00037  dbSNP: rs374599949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003548389 SCV004267596 uncertain significance not provided 2023-01-20 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. This variant is present in population databases (rs374599949, gnomAD 0.2%). This sequence change falls in intron 9 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. This variant has not been reported in the literature in individuals affected with PIEZO1-related conditions. 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.
PreventionGenetics, part of Exact Sciences RCV003929223 SCV004742761 likely benign PIEZO1-related disorder 2019-05-23 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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