ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002832920 SCV003204893 uncertain significance Amyloidosis, hereditary systemic 1 2024-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr136*) in the TTR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acid(s) of the TTR protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 2002179). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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