ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.398C>G (p.Pro133Arg)

gnomAD frequency: 0.00001  dbSNP: rs876657842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215306 SCV000271895 uncertain significance not specified 2015-11-09 criteria provided, single submitter clinical testing The p.Pro133Arg variant in LAMA4 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro133Arg variant is uncertain.

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