ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.461C>T (p.Thr154Met)

gnomAD frequency: 0.00197  dbSNP: rs140845661
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218386 SCV000269365 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr154Met in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 5.2% (10/194) of Luhya (Kenyan) chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm. nih.gov/projects/SNP; dbSNP rs140845661).
Labcorp Genetics (formerly Invitae), Labcorp RCV000474356 SCV000561254 benign Hypertrophic cardiomyopathy 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000218386 SCV002639142 uncertain significance not specified 2022-09-08 criteria provided, single submitter clinical testing The p.T154M variant (also known as c.461C>T), located in coding exon 3 of the MYOM1 gene, results from a C to T substitution at nucleotide position 461. The threonine at codon 154 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227717 SCV003924132 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing MYOM1 NM_003803.3 exon 4 p.Thr145Met (c.461C>T): This variant has not been reported in the literature and is present in 0.6% (152/23992) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/18-3189056-G-A). This variant is present in ClinVar (Variation ID:226824). 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.
PreventionGenetics, part of Exact Sciences RCV004541311 SCV004760660 benign MYOM1-related disorder 2019-11-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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