ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1754G>C (p.Gly585Ala) (rs794728398)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181892 SCV000234195 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNH2 gene. The G925A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). G925A has been identified in one other unrelated individual referred for LQTS genetic testing at GeneDx due to a history of syncope and cardiac arrest. However, segregation data are limited for this family due to the lack of clinical information provided. The G925A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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