ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs)

dbSNP: rs1574786170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000984509 SCV001132565 likely pathogenic Infantile-onset ascending hereditary spastic paralysis 2018-11-15 criteria provided, single submitter research The homozygous p.Leu352SerfsTer11 variant in ALS2 was identified by our study in one individual with Infantile-Onset Spastic Paraplegia. This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 352 and leads to a premature termination codon 11 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the ALS2 gene is an established disease mechanism in autosomal recessive Infantile-Onset Spastic Paraplegia, and this is a loss of function variant. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.
Medical Molecular Genetics Department, National Research Center RCV000984509 SCV002538662 pathogenic Infantile-onset ascending hereditary spastic paralysis criteria provided, single submitter clinical testing Homozygous

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