ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2980A>G (p.Ile994Val)

gnomAD frequency: 0.00127  dbSNP: rs111363334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346158 SCV000472021 uncertain significance Iodotyrosyl coupling defect 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000897362 SCV001041503 likely benign not provided 2024-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022068 SCV004964814 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.2980A>G (p.I994V) alteration is located in exon 11 (coding exon 11) of the TG gene. This alteration results from a A to G substitution at nucleotide position 2980, causing the isoleucine (I) at amino acid position 994 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000897362 SCV005401625 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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