ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1584+8G>A

gnomAD frequency: 0.00003  dbSNP: rs762649633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542145 SCV000640342 likely benign Lethal congenital glycogen storage disease of heart 2024-03-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269251 SCV001448573 uncertain significance not specified 2020-11-02 criteria provided, single submitter clinical testing Variant summary: PRKAG2 c.1584+8G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251450 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1584+8G>A in individuals affected with Hypertrophic Cardiomyopathy With Wolff-Parkinson-White and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798878 SCV002043487 uncertain significance Cardiomyopathy 2020-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424111 SCV004156981 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PRKAG2: BP4

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