ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1797C>A (p.Ser599Arg)

dbSNP: rs199472935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004017368 SCV004849032 uncertain significance Cardiovascular phenotype 2019-04-22 criteria provided, single submitter clinical testing The c.1797C>A (p.S599R) alteration is located in exon 7 (coding exon 7) of the KCNH2 gene. This alteration results from a C to A substitution at nucleotide position 1797, causing the serine (S) at amino acid position 599 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000057994 SCV000089514 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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