ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)

dbSNP: rs147814121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848133 SCV002105198 uncertain significance Hereditary spastic paraplegia 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885405 SCV002306505 uncertain significance Spastic paraplegia 2023-05-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 411 of the SLC16A2 protein (p.Gly411Arg). This variant is present in population databases (rs147814121, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with SLC16A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1344030). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC16A2 protein function. 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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