ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2230C>T (p.Arg744Ter) (rs150738413)

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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 RCV000155294 SCV000605385 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155294 SCV000204980 uncertain significance not specified 2013-05-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Arg744X var iant in TMC1 has not been reported in individuals with hearing loss, but has bee n identified in 0.07% (3/4406) of African American chromosomes from a broad popu lation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/r s150738413). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This nonsense varian t leads to a premature termination codon at position 744, which occurs 17 residu es upstream of the normal termination codon, and is predicted to lead to a trunc ated protein. However, due to its presence in the penultimate exon of TMC1 affec ting only the last 17 residues in the C-terminus of the protein, the impact of t his variant on the normal function of the protein is not clear. In summary, addi tional information is needed to determine the clinical significance of this vari ant.

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