ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) (rs370637245)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618149 SCV000737587 uncertain significance Cardiovascular phenotype 2016-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678934 SCV000805146 likely pathogenic Long QT syndrome 2 2018-02-17 criteria provided, single submitter clinical testing
Invitae RCV000699875 SCV000828605 uncertain significance Long QT syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 509 of the KCNH2 protein (p.Asp509Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs370637245, ExAC 0.002%). This variant has been observed in an individual referred for long QT syndrome testing (PMID: 23631430). ClinVar contains an entry for this variant (Variation ID: 200354). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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