ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134889 SCV003815431 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV003134889 SCV003842375 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003358142 SCV004057468 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2546G>A (p.R849H) alteration is located in exon 19 (coding exon 19) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 2546, causing the arginine (R) at amino acid position 849 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003134889 SCV005731337 benign not provided 2024-02-09 criteria provided, single submitter clinical testing

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