ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.-7C>T

gnomAD frequency: 0.00001  dbSNP: rs782637185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191471 SCV001359293 uncertain significance Fabry disease 2019-09-04 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the GLA gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/21879 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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