Submissions for variant NM_003235.5(TG):c.1573G>A (p.Gly525Arg)

gnomAD frequency: 0.00043  dbSNP: rs140232663

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000902126	SCV001046531	likely benign	not provided	2024-03-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162888	SCV001324867	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004702512	SCV005203571	uncertain significance	not specified	2024-07-15	criteria provided, single submitter	clinical testing	Variant summary: TG c.1573G>A (p.Gly525Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00073 in 251182 control chromosomes, predominantly at a frequency of 0.0014 within the Latino subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in TG causing TG-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1573G>A in individuals affected with TG-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 727745). Based on the evidence outlined above, the variant was classified as uncertain significance.
Clinical Genetics, Academic Medical Center	RCV000902126	SCV001925272	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000902126	SCV001970908	likely benign	not provided		no assertion criteria provided	clinical testing