ClinVar Miner

Submissions for variant NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr)

dbSNP: rs121912649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273929 SCV002559516 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Identified with a second TG variant likely on the opposite allele (in trans) in a patient with congenital goitrous hypothyroidism (Hishinuma et al., 2006; Kitanaka et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as C1878Y; This variant is associated with the following publications: (PMID: 16477365, 16720658)
OMIM RCV000013541 SCV000033788 pathogenic Iodotyrosyl coupling defect 2006-01-01 no assertion criteria provided literature only

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