ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.733G>A (p.Gly245Ser)

gnomAD frequency: 0.00002  dbSNP: rs189506473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490322 SCV000267547 uncertain significance Hypothyroidism due to TSH receptor mutations 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000490322 SCV001276514 uncertain significance Hypothyroidism due to TSH receptor mutations 2017-05-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001118245 SCV001276515 benign Familial hyperthyroidism due to mutations in TSH receptor 2017-05-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001753637 SCV001986262 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing Identified in the heterozygous state in several individuals with congenital hypothyroidism; however, evidence in support of pathogenicity for this variant was not provided in the report and some individuals also had variants in other genes associated with congenital hypothyroidism (Yuan et al., 2008; Long et al., 2018; Makretskaya et al., 2018; Lee et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17953807, 21714469, 18379122, 30022773, 30240412, 21707688, 20083154, 32459320)

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