ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) (rs145465528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000209850 SCV000800688 uncertain significance Merosin deficient congenital muscular dystrophy 2018-04-02 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209850 SCV000265526 likely pathogenic Merosin deficient congenital muscular dystrophy 2015-10-09 criteria provided, single submitter research
Invitae RCV000800716 SCV000940446 uncertain significance Laminin alpha 2-related dystrophy 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 239 of the LAMA2 protein (p.Arg239Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs145465528, ExAC 0.02%). This variant has been observed as homozygous in 2 siblings affected with developmental delays, seizures, ataxia, and spastic diplegia  (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 224092). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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