ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.508G>C (p.Val170Leu)

gnomAD frequency: 0.00003  dbSNP: rs782274835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514668 SCV001722572 benign Severe X-linked myotubular myopathy 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346590 SCV004074566 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.508G>C (p.V170L) alteration is located in exon 7 (coding exon 6) of the MTM1 gene. This alteration results from a G to C substitution at nucleotide position 508, causing the valine (V) at amino acid position 170 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001514668 SCV002084517 likely benign Severe X-linked myotubular myopathy 2021-06-25 no assertion criteria provided clinical testing

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