ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2559G>A (p.Met853Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458330 SCV004177086 uncertain significance Lymphatic malformation 6 2023-10-16 criteria provided, single submitter clinical testing The PIEZO1 c.2559G>A (p.Met853Ile) variant was identified at a near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 1/152,234 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors suggest that the variant does not impact 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.

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