ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr)

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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 RCV003717480 SCV004513895 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738852 SCV005349247 uncertain significance PIEZO1-related disorder 2024-03-26 no assertion criteria provided clinical testing The PIEZO1 c.6443T>C variant is predicted to result in the amino acid substitution p.Ile2148Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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