ClinVar Miner

Submissions for variant NM_003235.5(TG):c.3999C>G (p.Ile1333Met)

gnomAD frequency: 0.00134  dbSNP: rs150728539
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755283 SCV002005380 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002540613 SCV003676006 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.3999C>G (p.I1333M) alteration is located in exon 18 (coding exon 18) of the TG gene. This alteration results from a C to G substitution at nucleotide position 3999, causing the isoleucine (I) at amino acid position 1333 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001755283 SCV004467770 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001755283 SCV005196121 uncertain significance not provided criteria provided, single submitter not provided

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