ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)

gnomAD frequency: 0.00003  dbSNP: rs769506340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661912 SCV000784234 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661913 SCV000784235 uncertain significance Lymphatic malformation 6 2018-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227195 SCV002506282 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing The PIEZO1 c.3107G>A; p.Arg1036His variant (rs769506340), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 548456). This variant is found in the general population with an overall allele frequency of 0.01% (21/185990 alleles) in the Genome Aggregation Database. The arginine at codon 1036 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.226). Given the lack of clinical and functional data, the significance of the p.Arg1036His variant is uncertain at this time.
Ambry Genetics RCV002530589 SCV003642271 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.3107G>A (p.R1036H) alteration is located in exon 22 (coding exon 22) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 3107, causing the arginine (R) at amino acid position 1036 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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