ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)

gnomAD frequency: 0.00002  dbSNP: rs764742900
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618106 SCV000739961 likely benign Cardiovascular phenotype 2016-06-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000641191 SCV000762829 likely benign Lethal congenital glycogen storage disease of heart 2024-12-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163070 SCV001325072 uncertain significance Hypertrophic cardiomyopathy 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001163071 SCV001325073 uncertain significance Wolff-Parkinson-White pattern 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001171874 SCV001334758 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189157 SCV001356386 likely benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001171874 SCV001939095 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002739 SCV004842295 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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