ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)

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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 RCV003134879 SCV003813020 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003134879 SCV004677789 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004661619 SCV005149902 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.3818A>G (p.D1273G) alteration is located in exon 27 (coding exon 27) of the PIEZO1 gene. This alteration results from a A to G substitution at nucleotide position 3818, causing the aspartic acid (D) at amino acid position 1273 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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