ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1234-7C>T

gnomAD frequency: 0.00001  dbSNP: rs1456377814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445710 SCV001648744 likely benign Lethal congenital glycogen storage disease of heart 2021-05-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524937 SCV001734918 likely benign Cardiomyopathy 2020-07-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488751 SCV004241580 likely benign not specified 2023-12-21 criteria provided, single submitter clinical testing Variant summary: PRKAG2 c.1234-7C>T 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. Consensus agreement among computation 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 5.6e-06 in 1,605,048 control chromosomes (gnomAD v4.0 dataset). 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.1234-7C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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