ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1000-1G>A

dbSNP: rs869312204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389324 SCV001590647 pathogenic Fabry disease 2020-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10200059). Disruption of this splice site has been observed in individual(s) with Fabry disease (PMID: 10200059, 16595074, 18023222, 20022777). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in the last intron (intron 6) of the GLA gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Revvity Omics, Revvity RCV003137794 SCV003824043 pathogenic not provided 2022-10-02 criteria provided, single submitter clinical testing

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