ClinVar Miner

Submissions for variant NM_001059.3(TACR3):c.1289C>T (p.Thr430Met)

gnomAD frequency: 0.00001  dbSNP: rs200736098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522226 SCV000619561 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing The T430M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). T430M is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics RCV000764521 SCV000895604 uncertain significance Hypogonadotropic hypogonadism 11 with or without anosmia 2018-10-31 criteria provided, single submitter clinical testing

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