ClinVar Miner

Submissions for variant NM_003235.5(TG):c.275G>T (p.Cys92Phe)

dbSNP: rs1313276149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004587199 SCV005077826 uncertain significance Iodotyrosyl coupling defect 2024-07-11 criteria provided, single submitter clinical testing A homozygous missense variant in exon 4 of the TG gene that results in the amino acid substitution of Phenylalanine for Cysteine at codon 92 (p.Cys92Phe; ENST00000220616.9) was detected . The p.Cys92Phe variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomAD (v2.1) and topmed databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 and damaging by SIFT, LRT, and MutationTaster2. The reference codon is conserved across species.
Clinical Genetics, Academic Medical Center RCV001730404 SCV001979298 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730404 SCV001980078 uncertain significance not provided no assertion criteria provided clinical testing

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