ClinVar Miner

Submissions for variant NM_003235.5(TG):c.475C>T (p.Arg159Ter)

gnomAD frequency: 0.00004  dbSNP: rs759267330
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329059 SCV001520360 pathogenic Iodotyrosyl coupling defect 2020-01-02 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001329059 SCV004099194 pathogenic Iodotyrosyl coupling defect 2023-07-07 criteria provided, single submitter clinical testing PVS1, PM2, PM3_Supporting
CeGaT Center for Human Genetics Tuebingen RCV003438744 SCV004163248 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing TG: PVS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003438744 SCV004295932 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg159*) in the TG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TG are known to be pathogenic (PMID: 19837936, 23164529). This variant is present in population databases (rs759267330, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with congenital hypothyroidism (PMID: 27525530). ClinVar contains an entry for this variant (Variation ID: 1028100). For these reasons, this variant has been classified as Pathogenic.

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