ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002978190 SCV003692501 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.4364C>T (p.A1455V) alteration is located in exon 32 (coding exon 32) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 4364, causing the alanine (A) at amino acid position 1455 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130882 SCV003813024 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003130882 SCV005731102 benign not provided 2024-08-21 criteria provided, single submitter clinical testing

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