ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) (rs1060499872)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455744 SCV000539443 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only reported in 1 proband
Invitae RCV000705444 SCV000834441 uncertain significance Long QT syndrome 2018-12-05 criteria provided, single submitter clinical testing This variant, c.3098_3100dupGGC, results in the insertion of 1 amino acid to the KCNH2 protein (p.Arg1033dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual referred for genetic testing for Long QT syndrome (LQTS) (PMID: 19716085). This variant has also been reported as c.3101_3103insGGC (p.1034insR). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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