ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys)

gnomAD frequency: 0.00003  dbSNP: rs1021969177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331713 SCV001523812 uncertain significance Lymphatic malformation 6 2020-06-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035719 SCV005001873 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.2401C>T (p.R801C) alteration is located in exon 18 (coding exon 18) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 2401, causing the arginine (R) at amino acid position 801 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004570801 SCV005050970 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing PIEZO1: PM2, BP4

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