ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003155903 SCV003844046 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2023-03-15 criteria provided, single submitter clinical testing A heterozygous missense variant in Exon 16 of the PIEZO1 gene that results in the amino acid substitution of Leucine for Proline at codon 722 was detected . This variant has not been reported in the 1000 genomes, gnomAD and gnomdAD databases and has a minor allele frequency of 0.003% and 0.006% in the topmed and our internal databases respectively. The in silico predictions of the variant are. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003561201 SCV004277634 benign not provided 2023-04-27 criteria provided, single submitter clinical testing

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