Submissions for variant NM_018896.5(CACNA1G):c.865C>T (p.Arg289Cys)

gnomAD frequency: 0.00002  dbSNP: rs761241506

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003121290	SCV003785620	likely benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004244616	SCV004915108	uncertain significance	Inborn genetic diseases	2024-01-02	criteria provided, single submitter	clinical testing	The c.865C>T (p.R289C) alteration is located in exon 6 (coding exon 6) of the CACNA1G gene. This alteration results from a C to T substitution at nucleotide position 865, causing the arginine (R) at amino acid position 289 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV003121290	SCV005392562	uncertain significance	not provided	2024-05-03	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 published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005356352	SCV005920085	uncertain significance	Spinocerebellar ataxia type 42	2021-11-24	criteria provided, single submitter	research