ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.782del (p.Gly261fs)

dbSNP: rs869312400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250019 SCV002516485 pathogenic Fabry disease 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403751 SCV004110958 likely pathogenic GLA-related disorder 2023-04-04 criteria provided, single submitter clinical testing The GLA c.782delG variant is predicted to result in a frameshift and premature protein termination (p.Gly261Valfs*8). This variant was reported in male with classic Fabry disease, with α‐gal A enzyme activity in leukocytes <5% of normal activity (Nampoothiri et al. 2020. PubMed ID: 33204599). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in GLA are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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