ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) (rs727504769)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156082 SCV000205795 likely benign not specified 2013-09-10 criteria provided, single submitter clinical testing Ala300Ala in Exon 6 of KCNQ1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Invitae RCV000227118 SCV000283885 likely benign Long QT syndrome 2020-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104723 SCV001261609 uncertain significance Short QT syndrome 2 2018-06-12 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 Clinical Services Laboratory,Illumina RCV001104724 SCV001261610 uncertain significance Jervell and Lange-Nielsen syndrome 1 2018-06-12 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 Clinical Services Laboratory,Illumina RCV001104725 SCV001261611 uncertain significance Long QT syndrome 1 2018-06-12 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 Clinical Services Laboratory,Illumina RCV001104726 SCV001261612 uncertain significance Atrial fibrillation, familial, 3 2018-06-12 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.
Color Health, Inc RCV001177332 SCV001341527 likely benign Arrhythmia 2018-12-03 criteria provided, single submitter clinical testing

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