ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1777del (p.Ala593fs)

dbSNP: rs2140112570
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251066 SCV002521445 likely pathogenic Hypothyroidism due to TSH receptor mutations 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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