ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.947G>T (p.Arg316Leu)

dbSNP: rs370453303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652702 SCV000774573 uncertain significance Hereditary spastic paraplegia 75 2021-04-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 316 of the MAG protein (p.Arg316Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAG-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: "Possibly 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.
Ambry Genetics RCV004985051 SCV005617762 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.947G>T (p.R316L) alteration is located in exon 6 (coding exon 4) of the MAG gene. This alteration results from a G to T substitution at nucleotide position 947, causing the arginine (R) at amino acid position 316 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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