ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1287A>G

gnomAD frequency: 0.00003  dbSNP: rs534940271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442458 SCV000525863 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TMPO gene. The K290E variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server; Exome Aggregation Consortium). The K290E variant 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. Nevertheless, this substitution occurs at a position that is not conserved, and glutamic acid (E) is the native amino acid at this position in at least one species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001396124 SCV001597846 likely benign Loeys-Dietz syndrome 2 2023-12-11 criteria provided, single submitter clinical testing

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