ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu)

dbSNP: rs727502850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667952 SCV000792484 uncertain significance Merosin deficient congenital muscular dystrophy 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001294418 SCV001483296 uncertain significance LAMA2-related muscular dystrophy 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1411 of the LAMA2 protein (p.Gly1411Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs727502850, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 162577). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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