ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.1313G>A (p.Arg438His)

gnomAD frequency: 0.00003  dbSNP: rs1210957618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001131232 SCV001290846 uncertain significance Deficiency of iodide peroxidase 2017-04-28 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.
GeneDx RCV005051861 SCV005685695 likely pathogenic not provided 2024-07-23 criteria provided, single submitter clinical testing 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: 28648508, 27373559, 32765423)

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