ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.278A>G (p.Gln93Arg)

dbSNP: rs199476151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242399 SCV000309555 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000128680 SCV005324958 likely pathogenic not provided 2023-05-19 criteria provided, single submitter clinical testing Listed in a supplemental file as a TPM2 variant from the LOVD database, and no additional information was provided (Marston et al., 2013); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27527004, 24692096, 33919826, 23886664)
TPM2 homepage - Leiden Muscular Dystrophy pages RCV000128680 SCV000172320 not provided not provided no assertion provided not provided

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