ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2500C>T (p.Arg834Cys)

dbSNP: rs1363207852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908742 SCV002168880 likely benign not provided 2023-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552095 SCV004120777 uncertain significance KCNH1-related disorder 2023-03-08 criteria provided, single submitter clinical testing The KCNH1 c.2500C>T variant is predicted to result in the amino acid substitution p.Arg834Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-210857093-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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