ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.81dup (p.Lys28Ter) (rs794728475)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182015 SCV000234318 pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing Although the c.81dupT pathogenic variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a duplication of a single nucleotide that results in a premature stop codon at residue 28, denoted p.K28X. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Furthermore, the c.81dupT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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