ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1793A>G (p.His598Arg)

gnomAD frequency: 0.00005  dbSNP: rs201373390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875386 SCV001017703 benign Severe X-linked myotubular myopathy 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027863 SCV005009406 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.1793A>G (p.H598R) alteration is located in exon 15 (coding exon 14) of the MTM1 gene. This alteration results from a A to G substitution at nucleotide position 1793, causing the histidine (H) at amino acid position 598 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000875386 SCV002084541 likely benign Severe X-linked myotubular myopathy 2021-09-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541741 SCV004761072 likely benign MTM1-related disorder 2022-07-20 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).

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