ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.524C>T (p.Thr175Met)

gnomAD frequency: 0.00007  dbSNP: rs193141883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001796283 SCV001003344 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-12-21 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001796283 SCV001468374 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2021-03-30 criteria provided, single submitter clinical testing ELANE NM_001972.3 exon 4 p.Thr175Met (c.524C>T): This variant has not been reported in the literature but is present in 0.2% (82/35388) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-855721-C-T?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001597224 SCV001831919 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001597224 SCV002049086 uncertain significance not provided 2021-03-04 criteria provided, single submitter clinical testing The ELANE c.524C>T; p.Thr175Met variant (rs193141883), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 696438). This variant is found in the Latino population with an allele frequency of 0.2% (82/35388 alleles) in the Genome Aggregation Database. The threonine at codon 175 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.684). However, given the lack of clinical and functional data, the significance of the p.Thr175Met variant is uncertain at this time.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264027 SCV002543422 likely benign Autoinflammatory syndrome 2021-04-05 criteria provided, single submitter clinical testing

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