ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)

gnomAD frequency: 0.00003  dbSNP: rs952211002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608412 SCV000712283 likely benign not specified 2016-06-24 criteria provided, single submitter clinical testing p.Thr198Ala in exon 7 of TRDN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >5 mammals have an alanine (Ala) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein.
GeneDx RCV001764722 SCV001990215 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024893 SCV005024486 uncertain significance Cardiovascular phenotype 2024-02-22 criteria provided, single submitter clinical testing The p.T198A variant (also known as c.592A>G), located in coding exon 7 of the TRDN gene, results from an A to G substitution at nucleotide position 592. The threonine at codon 198 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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