ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.31_43dup (p.Ala15fs)

dbSNP: rs1928595440
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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 RCV001177744 SCV001342007 pathogenic Fabry disease 2019-03-04 criteria provided, single submitter clinical testing This variant inserts 13 nucleotides in exon 1 of the GLA gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with Fabry disease or cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of function variants in the GLA gene cause Fabry disease in males. Female carriers frequently manifest clinical features, usually with later onset. Although loss of function GLA variants are not typically associated with cardiomyopathy, cardiac involvement may vary depending on individuals and variants. Based on available evidence, this variant is classified as Pathogenic.

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