ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.-8C>G (rs371291716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769545 SCV000900941 uncertain significance Cardiomyopathy 2015-11-05 criteria provided, single submitter clinical testing
Color RCV000771895 SCV000904659 likely benign Fabry disease 2018-08-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586695 SCV000695752 likely benign not provided 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The GLA c.-8C>G variant involves the alteration of a non-conserved nucleotide located in the 5UTR of the GLA gene. Mutation taster predicts a benign outcome for this substitution. This variant was found in 13/86651 control chromosomes at a frequency of 0.00015, which does not exceed the estimated maximal expected allele frequency of a pathogenic GLA variant (0.005). However, 5 male individuals carry this variant in the Non-Finnish Europe control population, indicating the variant to be in the benign spectrum. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as Likely Benign until additional information becomes available.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150752 SCV000198204 not provided not specified 2013-02-19 no assertion provided clinical testing -8C>G in exon 8 of GLA: This variant is outside of the Kosiak sequence at the translation start site, and is thus outside of the ROI for this test.

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