ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1066G>A (p.Val356Ile)

dbSNP: rs754172417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946038 SCV002200080 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552117 SCV004114129 uncertain significance KCNH1-related disorder 2022-12-12 criteria provided, single submitter clinical testing The KCNH1 c.1066G>A variant is predicted to result in the amino acid substitution p.Val356Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-211093378-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV001946038 SCV005187197 uncertain significance not provided criteria provided, single submitter not provided

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