ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)

gnomAD frequency: 0.00016  dbSNP: rs543115615
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507361 SCV001712879 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001507361 SCV002759104 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV003264047 SCV003945638 uncertain significance Inborn genetic diseases 2023-04-08 criteria provided, single submitter clinical testing The c.2744A>G (p.N915S) alteration is located in exon 20 (coding exon 20) of the PIEZO1 gene. This alteration results from a A to G substitution at nucleotide position 2744, causing the asparagine (N) at amino acid position 915 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001507361 SCV004236071 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507361 SCV004266510 benign not provided 2024-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001507361 SCV005879521 uncertain significance not provided 2024-08-23 criteria provided, single submitter clinical testing The PIEZO1 c.2744A>G; p.Asn915Ser variant (rs543115615), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1162800). This variant is found predominantly in the African/African-American population with an allele frequency of 0.23% (39/16492 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is neutral (REVEL: 0.04). While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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