Submissions for variant NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)

dbSNP: rs768768744

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000324227	SCV000339636	uncertain significance	not provided	2016-02-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000814374	SCV000954782	uncertain significance	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2022-11-09	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 390 of the CACNA1A protein (p.Asn390Lys). This variant is present in population databases (rs768768744, gnomAD 0.002%). This missense change has been observed in individual(s) with episodic ataxia and migraine (PMID: 34806130). ClinVar contains an entry for this variant (Variation ID: 286277). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1A protein function. 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	RCV002494856	SCV002782317	uncertain significance	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2022-02-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000324227	SCV002822527	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, PP3