ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)

gnomAD frequency: 0.00048  dbSNP: rs528448732
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508790 SCV001715163 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002567998 SCV003679275 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.7174G>A (p.E2392K) alteration is located in exon 50 (coding exon 50) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 7174, causing the glutamic acid (E) at amino acid position 2392 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001508790 SCV003812931 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394083 SCV004119595 uncertain significance PIEZO1-related disorder 2023-06-19 criteria provided, single submitter clinical testing The PIEZO1 c.7174G>A variant is predicted to result in the amino acid substitution p.Glu2392Lys. To our knowledge, this variant has not been reported in individuals with PIEZO1-related disease. This variant is reported in 0.078% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88782483-C-T). In ClinVar, this variant is classified as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/1163588/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV003152632 SCV003841036 affects Blood group, ER 2023-01-26 no assertion criteria provided literature only
OMIM RCV003152633 SCV003841038 pathogenic ER BLOOD GROUP SYSTEM, ER(a-b-) 2023-01-26 no assertion criteria provided literature only

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