ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.548-10T>A

gnomAD frequency: 0.00001  dbSNP: rs782440801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060594 SCV001225294 uncertain significance Fabry disease 2023-07-27 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the GLA gene. It does not directly change the encoded amino acid sequence of the GLA protein. This variant is present in population databases (rs782440801, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with GLA-related conditions. ClinVar contains an entry for this variant (Variation ID: 855343). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001060594 SCV001457725 uncertain significance Fabry disease 2020-09-16 no assertion criteria provided clinical testing

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