Submissions for variant NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)

gnomAD frequency: 0.00022  dbSNP: rs150430628

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594938	SCV000707028	uncertain significance	not provided	2017-04-06	criteria provided, single submitter	clinical testing
Invitae	RCV001079479	SCV000758341	benign	Severe X-linked myotubular myopathy	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000594938	SCV001937731	benign	not provided	2020-04-22	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000594938	SCV004236395	uncertain significance	not provided	2020-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024802	SCV005008248	uncertain significance	Inborn genetic diseases	2024-01-03	criteria provided, single submitter	clinical testing	The c.1052A>G (p.K351R) alteration is located in exon 10 (coding exon 9) of the MTM1 gene. This alteration results from a A to G substitution at nucleotide position 1052, causing the lysine (K) at amino acid position 351 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001079479	SCV002084526	likely benign	Severe X-linked myotubular myopathy	2020-01-06	no assertion criteria provided	clinical testing