ClinVar Miner

Submissions for variant NM_000460.4(THPO):c.233A>G (p.Glu78Gly)

dbSNP: rs1447030119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543677 SCV001762367 uncertain significance Thrombocythemia 1 2021-07-06 criteria provided, single submitter clinical testing THPO c.233A>G is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging and the glutamic acid residue at this position is not evolutionarily conserved across the species assessed. We consider the clinical significance of THPO c.233A>G to be uncertain at this time.

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