ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.230C>T (p.Thr77Met)

gnomAD frequency: 0.00004  dbSNP: rs782640338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939442 SCV001085286 benign Severe X-linked myotubular myopathy 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363023 SCV004071541 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.230C>T (p.T77M) alteration is located in exon 4 (coding exon 3) of the MTM1 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the threonine (T) at amino acid position 77 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000939442 SCV002084508 likely benign Severe X-linked myotubular myopathy 2020-01-31 no assertion criteria provided clinical testing

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