ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)

gnomAD frequency: 0.00068  dbSNP: rs146505418
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811589 SCV001158295 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing The PIEZO1 c.1591C>T; p.Arg531Cys variant (rs146505418), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.047 % (89 / 187,772 alleles) in the Genome Aggregation Database. The arginine at codon 531 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg531Cys variant is uncertain at this time.
GeneDx RCV001811589 SCV002552786 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001811589 SCV003265338 benign not provided 2022-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549154 SCV003726177 uncertain significance Inborn genetic diseases 2022-06-06 criteria provided, single submitter clinical testing The c.1591C>T (p.R531C) alteration is located in exon 13 (coding exon 13) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 1591, causing the arginine (R) at amino acid position 531 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001811589 SCV003812991 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811589 SCV005193289 uncertain significance not provided criteria provided, single submitter not provided

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