ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3279_3280delinsAA (p.Leu1094Met)

dbSNP: rs1800911944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235898 SCV001408605 uncertain significance Long QT syndrome 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 962100). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1094 of the KCNH2 protein (p.Leu1094Met). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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