ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.38C>T (p.Ser13Phe)

gnomAD frequency: 0.00005  dbSNP: rs144473998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398779 SCV001600554 likely benign Severe X-linked myotubular myopathy 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV003159207 SCV003852876 uncertain significance not provided 2022-09-30 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
Ambry Genetics RCV003169981 SCV003866723 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.38C>T (p.S13F) alteration is located in exon 2 (coding exon 1) of the MTM1 gene. This alteration results from a C to T substitution at nucleotide position 38, causing the serine (S) at amino acid position 13 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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