ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002624109 SCV003513514 benign not provided 2022-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002624110 SCV003760521 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.5744G>A (p.R1915H) alteration is located in exon 40 (coding exon 40) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 5744, causing the arginine (R) at amino acid position 1915 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002624109 SCV003815451 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing

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