ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.6569A>C (p.Lys2190Thr)

dbSNP: rs1562577830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707465 SCV000836564 uncertain significance LAMA2-related muscular dystrophy 2018-03-24 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LAMA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 2190 of the LAMA2 protein (p.Lys2190Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine.

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