ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)

gnomAD frequency: 0.00024  dbSNP: rs564395221
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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 RCV001002508 SCV001160467 uncertain significance not specified 2019-04-19 criteria provided, single submitter clinical testing The PIEZO1 c.6154G>A; p.Val2052Ile variant (rs564395221), 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 0.04% (75/185368 alleles) in the Genome Aggregation Database. The valine at codon 2052 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Val2052Ile variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV001509525 SCV001716276 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509525 SCV003265221 likely benign not provided 2022-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551696 SCV003698631 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.6154G>A (p.V2052I) alteration is located in exon 42 (coding exon 42) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 6154, causing the valine (V) at amino acid position 2052 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458219 SCV004177214 uncertain significance Lymphatic malformation 6 2023-08-26 criteria provided, single submitter clinical testing The PIEZO1 c.6154G>A (p.Val2052Ile) variant was identified at a near heterozygous allelic fraction. The PIEZO1 c.6154G>A (p.Val2052Ile) variant, to our knowledge, has not been reported in the medical literature. This variant has been reported as a variant of uncertain significance by three submitters and a likely benign variant by one submitter (ClinVar variation ID: 811975). Computational predictors are uncertain as to the impact of this variant on PIEZO1 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.
Revvity Omics, Revvity RCV001509525 SCV004236010 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing

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