Submissions for variant NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)

gnomAD frequency: 0.00006  dbSNP: rs751947412

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000658820	SCV000619782	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29482223)
CeGaT Center for Human Genetics Tuebingen	RCV000658820	SCV000780616	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000658820	SCV000854863	uncertain significance	not provided	2017-08-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001069420	SCV001234584	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-10-06	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333785	SCV001526465	uncertain significance	Spinocerebellar ataxia type 6	2018-10-25	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in one patient with sensory ataxia [PMID 29482223] and also present in the general population at a low allele frequency (gnomAD database)
Revvity Omics, Revvity	RCV000658820	SCV003830263	uncertain significance	not provided	2021-01-20	criteria provided, single submitter	clinical testing