ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.195-1G>T

dbSNP: rs398123206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291619 SCV000344298 pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763197 SCV000893814 pathogenic Fabry disease 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000763197 SCV002054453 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000763197 SCV004299649 pathogenic Fabry disease 2022-11-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 289868). Disruption of this splice site has been observed in individual(s) with Fabry disease (PMID: 8996967). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the GLA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777).

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