ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3796+1G>A

gnomAD frequency: 0.00001  dbSNP: rs869025599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736641 SCV004565296 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing The PIEZO1 c.3796+1G>A variant (rs869025599) is reported in the literature in one individual with generalized lymphatic dysplasia (Fotiou 2015). This variant is also reported in ClinVar (Variation ID: 223130). This variant is found in the Latino/Admixed American population with an allele frequency of 0.008% (2/24648 alleles) in the Genome Aggregation Database. This variant disrupts the canonical splice donor site of intron 26, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. REFERENCES Fotiou E et al. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015 PMID: 26333996
OMIM RCV000208768 SCV000264622 pathogenic Lymphatic malformation 6 2024-02-20 no assertion criteria provided literature only

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