ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2692+7C>G

dbSNP: rs372023163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539411 SCV000627466 likely benign Long QT syndrome 2023-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000829311 SCV000971027 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001729623 SCV006074382 likely benign not specified 2025-04-24 criteria provided, single submitter clinical testing Variant summary: KCNH2 c.2692+7C>G alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.2692+7C>G in individuals affected with KCNH2-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 456915). Based on the evidence outlined above, the variant was classified as likely benign.
Clinical Genetics, Academic Medical Center RCV001729623 SCV001979267 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729623 SCV001979767 benign not specified no assertion criteria provided clinical testing

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