Submissions for variant NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)

gnomAD frequency: 0.00017  dbSNP: rs141801816

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000707221	SCV000836309	likely benign	Myofibrillar myopathy 3	2023-12-15	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852561	SCV000995261	uncertain significance	Cardiomyopathy	2018-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000992419	SCV001144699	likely benign	not provided	2019-06-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000992419	SCV001788853	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000707221	SCV003817868	uncertain significance	Myofibrillar myopathy 3	2021-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003362922	SCV004056214	uncertain significance	Inborn genetic diseases	2023-08-07	criteria provided, single submitter	clinical testing	The c.1364G>A (p.R455Q) alteration is located in exon 10 (coding exon 9) of the MYOT gene. This alteration results from a G to A substitution at nucleotide position 1364, causing the arginine (R) at amino acid position 455 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.