Submissions for variant NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)

gnomAD frequency: 0.04384  dbSNP: rs2234919

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000122244	SCV000257673	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000122244	SCV000303880	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319857	SCV000389123	benign	Hypothyroidism due to TSH receptor mutations	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001118138	SCV001276401	benign	Familial hyperthyroidism due to mutations in TSH receptor	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001657769	SCV001872450	benign	not provided	2021-02-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26356361, 27884173, 18379122, 17953807, 7919995, 10037069, 24728327, 20981092, 17392608, 7508946, 8681963, 7556171)
Genome-Nilou Lab	RCV001839916	SCV002101556	benign	Familial gestational hyperthyroidism	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001118138	SCV002101667	benign	Familial hyperthyroidism due to mutations in TSH receptor	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000319857	SCV002101695	benign	Hypothyroidism due to TSH receptor mutations	2021-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV001657769	SCV004522574	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ITMI	RCV000122244	SCV000086468	not provided	not specified	2013-09-19	no assertion provided	reference population
Clinical Genetics, Academic Medical Center	RCV000122244	SCV001918409	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000122244	SCV001963458	benign	not specified		no assertion criteria provided	clinical testing