ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)

gnomAD frequency: 0.00042  dbSNP: rs141069645
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000755556 SCV000223531 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27930701, 28988457)
Illumina Laboratory Services, Illumina RCV000289555 SCV000406003 likely benign Andersen Tawil syndrome 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000346966 SCV000406004 likely benign Atrial fibrillation, familial, 9 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000385149 SCV000406005 likely benign Short QT syndrome type 3 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001083244 SCV000554350 likely benign Andersen Tawil syndrome; Short QT syndrome type 3 2024-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755556 SCV000604062 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing The p.Asn410Ser variant (rs141069645) has been previously reported once in a cohort of arrhythmogenic right ventricular cardiomyopathy (AVRC) patients (Sabater-Molina 2013); however, specific genetic and clinical information about the patient in question was not reported. This variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.034% (identified in 94 out of 276,876 chromosomes) and is listed the ClinVar database as likely benign or as a variant of uncertain significance (Variation ID: 190804). The asparagine at codon 410 is highly conserved considering 14 species up to frog (Alamut software v2.9), although several species of fish have a serine at this position, suggesting this change is evolutionary tolerated. Likewise, computational analyses suggest this variant does not have a significant effect on KCNJ2 protein structure/function (SIFT: tolerated, PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Asn410Ser variant cannot be determined with certainty.
Ambry Genetics RCV000618240 SCV000735566 likely benign Cardiovascular phenotype 2018-09-19 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.
Mendelics RCV000755556 SCV001135103 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000170968 SCV001433445 likely benign not specified 2020-03-12 criteria provided, single submitter clinical testing

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