Submissions for variant NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)

gnomAD frequency: 0.90865  dbSNP: rs1991517

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000122254	SCV000303881	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392451	SCV000389156	likely benign	Familial hyperthyroidism due to mutations in TSH receptor	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000302729	SCV000389157	likely benign	Hypothyroidism due to TSH receptor mutations	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001541679	SCV001759705	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26356361, 10487707, 24728327, 17408423, 12589819)
Genome-Nilou Lab	RCV001839917	SCV002102151	benign	Familial gestational hyperthyroidism	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000392451	SCV002102162	benign	Familial hyperthyroidism due to mutations in TSH receptor	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000302729	SCV002102173	benign	Hypothyroidism due to TSH receptor mutations	2021-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV001541679	SCV004522579	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ITMI	RCV000122254	SCV000086478	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000122254	SCV001744101	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000122254	SCV001924647	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000122254	SCV001971187	benign	not specified		no assertion criteria provided	clinical testing