ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr)

dbSNP: rs770222800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811846 SCV002047988 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811846 SCV004534572 benign not provided 2023-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040894 SCV005001882 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.2875G>A (p.A959T) alteration is located in exon 21 (coding exon 21) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 2875, causing the alanine (A) at amino acid position 959 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001811846 SCV005193067 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV001811846 SCV005412552 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing BP4, PM2_moderate

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