ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.1760C>G (p.Thr587Arg)

gnomAD frequency: 0.00001  dbSNP: rs1309799184
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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 RCV000855410 SCV000998472 uncertain significance Familial visceral amyloidosis, Ostertag type 2019-08-26 criteria provided, single submitter clinical testing This FGA variant (rs1309799184) is rare (<0.1%) in large population datasets (gnomAD: 3/251246 total alleles; 0.001194%; no homozygotes). Additionally, c.1760C>G has not been reported in the literature, to our knowledge. The threonine residue at this position is not evolutionarily conserved across the species assessed. Of three bioinformatics tools queried, one predicts that the substitution would be damaging, while two predict that it would be tolerated. Due to insufficient evidence that this variant is deleterious, the clinical significance of c.17060C>G is uncertain at this time.

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