ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1_2del (p.Met1fs)

dbSNP: rs2147487930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939379 SCV002230717 pathogenic Fabry disease 2022-10-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1453975). Disruption of the initiator codon has been observed in individuals with Fabry disease (PMID: 8807334, 9100224, 12175777, 28275245, 28672034). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the GLA mRNA. The next in-frame methionine is located at codon 42. For these reasons, this variant has been classified as Pathogenic.

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