ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2276G>A (p.Arg759Gln)

gnomAD frequency: 0.00019  dbSNP: rs141905481
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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 RCV000932413 SCV001078095 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000932413 SCV001888939 benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542263 SCV003556181 uncertain significance Inborn genetic diseases 2021-06-08 criteria provided, single submitter clinical testing The c.2276G>A (p.R759Q) alteration is located in exon 11 (coding exon 11) of the KCNH1 gene. This alteration results from a G to A substitution at nucleotide position 2276, causing the arginine (R) at amino acid position 759 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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