Submissions for variant NM_153033.5(KCTD7):c.387C>T (p.Ala129=)

gnomAD frequency: 0.00032  dbSNP: rs140932942

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420919	SCV000513392	benign	not specified	2015-07-13	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.
Eurofins Ntd Llc (ga)	RCV000727498	SCV000709150	uncertain significance	not provided	2017-06-20	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000727498	SCV001144361	likely benign	not provided	2018-11-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001421064	SCV001623578	likely benign	Progressive myoclonic epilepsy type 3	2025-01-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001421064	SCV005875549	likely benign	Progressive myoclonic epilepsy type 3	2024-06-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970115	SCV004777649	likely benign	KCTD7-related disorder	2019-08-28	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).