Submissions for variant NM_172362.3(KCNH1):c.2434G>A (p.Ala812Thr)

gnomAD frequency: 0.00005  dbSNP: rs759775665

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000890616	SCV001034373	likely benign	not provided	2024-10-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000890616	SCV001860989	benign	not provided	2020-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002540090	SCV003621341	uncertain significance	Inborn genetic diseases	2021-07-17	criteria provided, single submitter	clinical testing	The c.2434G>A (p.A812T) 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 2434, causing the alanine (A) at amino acid position 812 to be replaced by a threonine (T). The p.A812T alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004550074	SCV004781817	likely benign	KCNH1-related disorder	2022-08-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).