ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)

dbSNP: rs587783766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146387 SCV000193671 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001582610 SCV001813737 likely pathogenic not provided 2021-08-24 criteria provided, single submitter clinical testing Has been reported previously as pathogenic/likely pathogenic variant in association with myotubular myopathy, however, additional information was not provided (Penon et al., 2018); Different missense variant at the same residue, G415V, was identified in a patient with a severe MTM1-related disorder, however, specific clinical and family segregation information was not included (Tsai et al., 2005); This variant is associated with the following publications: (PMID: 30047259)
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000146387 SCV002767077 likely pathogenic Severe X-linked myotubular myopathy 2020-10-19 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as likely pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0109 - This gene is known to be associated with X-linked recessive disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from glycine to glutamic acid (exon 11). (N) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools and highly conserved with a major amino acid change. (P) 0600 - Variant is located in an annotated domain or motif. The variant is located in the myotubularin-like phosphatase domain (NCBI). (N) 0704 - Comparable variant has low previous evidence for pathogenicity. The p.(Gly415Val) variant has been identified in a single individual with severe myotubular myopathy (PMID: 15725586). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. The variant has been classified as pathogenic in ClinVar. (P) 0905 - No segregation evidence has been identified for this variant in the literature. (N) 1007 - No published functional evidence has been identified for this variant in the literature. (N) 1205 - Variant is maternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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