ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)

dbSNP: rs1800975855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841113 SCV001358133 likely pathogenic Cardiac arrhythmia 2020-02-21 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 12 of the KCNH2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of KCNH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Ambry Genetics RCV002429839 SCV002741734 pathogenic Cardiovascular phenotype 2021-06-24 criteria provided, single submitter clinical testing The p.Q901* pathogenic mutation (also known as c.2701C>T), located in coding exon 12 of the KCNH2 gene, results from a C to T substitution at nucleotide position 2701. This changes the amino acid from a glutamine to a stop codon within coding exon 12. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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