ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131927 SCV003812952 uncertain significance not provided 2023-02-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003131927 SCV004562788 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003131927 SCV005412524 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing PM2_moderate
Ambry Genetics RCV004961204 SCV005474809 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.5393C>T (p.S1798F) alteration is located in exon 38 (coding exon 38) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 5393, causing the serine (S) at amino acid position 1798 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003131927 SCV005847507 benign not provided 2024-11-22 criteria provided, single submitter clinical testing

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