ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.50_54del (p.Arg17fs)

dbSNP: rs869312316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530926 SCV000622188 pathogenic Fabry disease 2017-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). This sequence change deletes 5 nucleotides from exon 1 of the GLA mRNA (c.50_54delGCTTC), causing a frameshift at codon 17. This creates a premature translational stop signal (p.Arg17Profs*12) and is expected to result in an absent or disrupted protein product.

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