ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1394G>A (p.Arg465His)

gnomAD frequency: 0.00008  dbSNP: rs147583558
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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 RCV000693304 SCV000821166 uncertain significance Hereditary spastic paraplegia 75 2019-04-30 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MAG-related disease. This variant is present in population databases (rs147583558, ExAC 0.02%). This sequence change replaces arginine with histidine at codon 465 of the MAG protein (p.Arg465His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Ambry Genetics RCV003343999 SCV004065934 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.1394G>A (p.R465H) alteration is located in exon 8 (coding exon 6) of the MAG gene. This alteration results from a G to A substitution at nucleotide position 1394, causing the arginine (R) at amino acid position 465 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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