Submissions for variant NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)

gnomAD frequency: 0.00010  dbSNP: rs183195890

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000651269	SCV000773120	likely benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2025-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002493045	SCV002803005	likely benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1	2021-09-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451581	SCV004181072	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451582	SCV004181073	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458497	SCV004181074	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451580	SCV004181076	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004025825	SCV004915043	uncertain significance	Inborn genetic diseases	2021-08-02	criteria provided, single submitter	clinical testing	The c.4718C>T (p.T1573M) alteration is located in exon 39 (coding exon 39) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 4718, causing the threonine (T) at amino acid position 1573 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV004792337	SCV005412803	uncertain significance	not provided	2024-09-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953183	SCV004774853	likely benign	CACNA1S-related disorder	2022-08-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).