ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1405G>C (p.Val469Leu)

gnomAD frequency: 0.00016  dbSNP: rs200754835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996032 SCV002275788 uncertain significance Hereditary spastic paraplegia 75 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 469 of the MAG protein (p.Val469Leu). This variant is present in population databases (rs200754835, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with MAG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1483221). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MAG protein function with a negative predictive value of 80%. 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.

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