ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.745A>G (p.Met249Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914882 SCV003267537 likely benign Severe X-linked myotubular myopathy 2024-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958853 SCV005450188 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.745A>G (p.M249V) alteration is located in exon 9 (coding exon 8) of the MTM1 gene. This alteration results from a A to G substitution at nucleotide position 745, causing the methionine (M) at amino acid position 249 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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