ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2639C>T (p.Pro880Leu)

dbSNP: rs201893722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333107 SCV001525598 uncertain significance Iodotyrosyl coupling defect 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546611 SCV003535217 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.2639C>T (p.P880L) alteration is located in exon 10 (coding exon 10) of the TG gene. This alteration results from a C to T substitution at nucleotide position 2639, causing the proline (P) at amino acid position 880 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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