ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) (rs144035770)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884095 SCV001027451 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001670 SCV001159215 uncertain significance not specified 2019-04-22 criteria provided, single submitter clinical testing The PIEZO1 c.7426C>T; p.Arg2476Cys variant (rs144035770), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an allele frequency in Africans of 0.65% (108/16,626 alleles) in the Genome Aggregation Database. The arginine at codon 2476 is moderately conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, based on the available information, the clinical significance of this variant is uncertain.
Mayo Clinic Laboratories, Mayo Clinic RCV000884095 SCV001715160 uncertain significance not provided 2020-01-26 criteria provided, single submitter clinical testing

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