ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)

gnomAD frequency: 0.00001  dbSNP: rs767886169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516141 SCV000574491 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000701436 SCV000830237 uncertain significance Hereditary spastic paraplegia 75 2019-05-03 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: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in the heterozygous state in an individual affected with hereditary spastic paraplegia (HSP) (PMID: 28832565). ClinVar contains an entry for this variant (Variation ID: 424680). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with leucine at codon 549 of the MAG protein (p.Ser549Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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