ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)

dbSNP: rs132630307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004589504 SCV005080711 likely pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 30047259, 20682747, 12522554, 27538056, 34011573, 10726846, 12859411)
OMIM RCV000011811 SCV000032044 pathogenic Severe X-linked myotubular myopathy 2003-08-01 no assertion criteria provided literature only

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