ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7057C>T (p.Arg2353Cys) (rs145885540)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284205 SCV000460072 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000536495 SCV000658749 uncertain significance Laminin alpha 2-related dystrophy 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2353 of the LAMA2 protein (p.Arg2353Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs145885540, ExAC 0.01%). This variant has not been reported in the literature in individuals with a LAMA2-related disease. ClinVar contains an entry for this variant (Variation ID: 355294). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000712196 SCV000842630 uncertain significance not provided 2019-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764631 SCV000895739 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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