ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.915T>A (p.Ser305Arg)

gnomAD frequency: 0.00007  dbSNP: rs142122217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119788 SCV001278230 benign Familial hyperthyroidism due to mutations in TSH receptor 2017-04-30 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.
Illumina Laboratory Services, Illumina RCV001121766 SCV001280413 uncertain significance Hypothyroidism due to TSH receptor mutations 2017-04-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002556560 SCV003461657 benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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