Submissions for variant NM_000252.3(MTM1):c.422C>T (p.Ala141Val)

gnomAD frequency: 0.00007  dbSNP: rs140642341

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194154	SCV000248088	likely benign	not specified	2015-04-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552763	SCV000634491	benign	Severe X-linked myotubular myopathy	2025-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517954	SCV003562315	uncertain significance	Inborn genetic diseases	2021-10-27	criteria provided, single submitter	clinical testing	The c.422C>T (p.A141V) alteration is located in exon 6 (coding exon 5) of the MTM1 gene. This alteration results from a C to T substitution at nucleotide position 422, causing the alanine (A) at amino acid position 141 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003430746	SCV004167009	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	MTM1: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003430746	SCV005206839	likely benign	not provided		criteria provided, single submitter	not provided