ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1803T>A (p.Tyr601Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003491701 SCV004236986 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003491701 SCV004305611 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr601*) in the TSHR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 164 amino acid(s) of the TSHR protein. This variant is present in population databases (rs759300253, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TSHR-related conditions. This variant disrupts a region of the TSHR protein in which other variant(s) (p.Leu653Val) have been determined to be pathogenic (PMID: 17456567, 19240155). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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