ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)

gnomAD frequency: 0.00005  dbSNP: rs587783785
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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 RCV000920576 SCV001065947 likely benign Severe X-linked myotubular myopathy 2024-08-26 criteria provided, single submitter clinical testing
GeneDx RCV001595056 SCV001829607 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV002540970 SCV003531492 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.1376A>G (p.N459S) alteration is located in exon 13 (coding exon 12) of the MTM1 gene. This alteration results from a A to G substitution at nucleotide position 1376, causing the asparagine (N) at amino acid position 459 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000920576 SCV001462909 likely benign Severe X-linked myotubular myopathy 2020-09-16 no assertion criteria provided clinical testing

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