ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)

gnomAD frequency: 0.00002  dbSNP: rs781051642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704262 SCV000833204 uncertain significance Infantile-onset ascending hereditary spastic paralysis 2018-05-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ALS2-related disease. 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"). 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. This sequence change replaces lysine with methionine at codon 1045 of the ALS2 protein (p.Lys1045Met). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and methionine. This variant is present in population databases (rs781051642, ExAC 0.01%).
Fulgent Genetics, Fulgent Genetics RCV000764354 SCV000895376 uncertain significance Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 2018-10-31 criteria provided, single submitter clinical testing

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