ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7088C>T (p.Thr2363Ile) (rs371403343)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500474 SCV000595516 uncertain significance not specified 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000557131 SCV000658751 uncertain significance Laminin alpha 2-related dystrophy 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 2363 of the LAMA2 protein (p.Thr2363Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs371403343, ExAC 0.009%). This variant has not been reported in the literature in individuals with a LAMA2-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on LAMA2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764632 SCV000895740 uncertain significance Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-31 criteria provided, single submitter clinical testing

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