Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |