ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)

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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 RCV001250568 SCV001425422 uncertain significance Acute myeloid leukemia 2020-04-23 criteria provided, single submitter clinical testing This RUNX1 variant is absent from a large population dataset and has not been reported in the literature, to our knowledge, although disease-associated missense variants have been reported in nearby residues. Three bioinformatic tools queried predict that this substitution would be probably damaging, and the glycine residue at this position is evolutionarily conserved across all species assessed. Due to lack of functional and segregation data, we consider the clinical significance of c.503G>T to be uncertain at this time.

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