ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1922C>G (p.Ala641Gly)

dbSNP: rs397516718
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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 RCV000037340 SCV000060997 uncertain significance not specified 2012-04-10 criteria provided, single submitter clinical testing The Ala634Gly variant in LAMA4 has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Ala634Gly variant.

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