ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys)

gnomAD frequency: 0.00001  dbSNP: rs1357636145
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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 RCV001804219 SCV002051773 uncertain significance Fanconi renotubular syndrome 3 2021-12-01 criteria provided, single submitter clinical testing EHHADH c.734A>G (rs1357636145) is rare (<0.1%) in a large population dataset (gnomAD: 2/251252 total alleles; 0.0008%; no homozygotes) 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 tyrosine residue at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of EHHADH c.734A>G to be uncertain at this time.

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