ClinVar Miner

Submissions for variant NM_000508.5(FGA):c.2089G>A (p.Gly697Ser)

gnomAD frequency: 0.00001  dbSNP: rs771023837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000627058 SCV000747766 uncertain significance AFib amyloidosis 2017-12-14 criteria provided, single submitter clinical testing This variant in FGA gene was identified in a male patient with hematuria, proteinuria and defects in glomerular basal membrane
PreventionGenetics, part of Exact Sciences RCV004527690 SCV004106531 uncertain significance FGA-related disorder 2023-05-19 criteria provided, single submitter clinical testing The FGA c.2089G>A variant is predicted to result in the amino acid substitution p.Gly697Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-155505788-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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