ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003488204 SCV004235995 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003488204 SCV004679903 benign not provided 2023-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364891 SCV005001863 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.1828C>T (p.L610F) alteration is located in exon 14 (coding exon 14) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 1828, causing the leucine (L) at amino acid position 610 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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