ClinVar Miner

Submissions for variant NM_003235.5(TG):c.385G>A (p.Val129Ile)

gnomAD frequency: 0.00001  dbSNP: rs115677932
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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 RCV001162777 SCV001324743 uncertain significance Iodotyrosyl coupling defect 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002483915 SCV002788984 uncertain significance Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2022-04-13 criteria provided, single submitter clinical testing
GeneDx RCV004726908 SCV005333240 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing Identified in a patient with congenital hypothyroidism who also harbored a variant in the TPO gene in published literature (PMID: 32459320); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32459320)

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