Submissions for variant NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])

dbSNP: rs764571894

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002017810	SCV002306148	uncertain significance	not provided	2023-12-07	criteria provided, single submitter	clinical testing	This variant, c.790_798dup, results in the insertion of 3 amino acid(s) of the KCNC3 protein (p.Ala264_Gly266dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with KCNC3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV002498040	SCV002778498	uncertain significance	Spinocerebellar ataxia type 13	2021-09-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002017810	SCV004140543	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	KCNC3: BS1, BS2