ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)

gnomAD frequency: 0.00004  dbSNP: rs781153622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232221 SCV000290203 likely benign Lethal congenital glycogen storage disease of heart 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001722260 SCV000729562 likely benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184820 SCV001350896 likely benign Cardiomyopathy 2018-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298305 SCV003997319 likely benign Cardiovascular phenotype 2023-04-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV003998883 SCV004842217 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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