ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)

dbSNP: rs141804012
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038943 SCV000062621 likely benign not specified 2013-06-08 criteria provided, single submitter clinical testing Ser157Ser in exon 4 of PRKAG2: This variant is not expected to have clinical sig nificance because it is does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8600 European American chromosomes and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs141804012). Ser1 57Ser in exon 4 of PRKAG2 (rs141804012; allele frequency = 2/8600) **
GeneDx RCV000038943 SCV000171192 benign not specified 2016-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000252984 SCV000318333 likely benign Cardiovascular phenotype 2017-03-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084750 SCV000762833 likely benign Lethal congenital glycogen storage disease of heart 2024-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769253 SCV000900629 likely benign Cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769253 SCV000914079 likely benign Cardiomyopathy 2018-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000641195 SCV001155321 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163068 SCV001325070 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 RCV001163069 SCV001325071 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038943 SCV003801122 benign not specified 2023-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038943 SCV001919585 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000641195 SCV001928900 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000641195 SCV001970381 likely benign not provided no assertion criteria provided clinical testing

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