ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)

dbSNP: rs117182113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663507 SCV001880329 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001663507 SCV001998782 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002495988 SCV002796328 uncertain significance Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12 2022-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001663507 SCV004259696 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 772 of the AFG3L2 protein (p.Leu772Ile). This variant is present in population databases (rs117182113, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AFG3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1256165). 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 AFG3L2 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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