Submissions for variant NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=)

gnomAD frequency: 0.00001  dbSNP: rs764413479

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000605488	SCV000725950	likely benign	not specified	2017-12-28	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.
Ambry Genetics	RCV002317364	SCV000851650	likely benign	Inborn genetic diseases	2017-03-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003767673	SCV004577836	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-09-15	criteria provided, single submitter	clinical testing