ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del)

dbSNP: rs749105981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992827 SCV001145387 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000992827 SCV001779406 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000992827 SCV004558260 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AFG3L2-related conditions. This variant is present in population databases (rs749105981, gnomAD 0.004%). This variant, c.1334_1336del, results in the deletion of 1 amino acid(s) of the AFG3L2 protein (p.Thr445del), but otherwise preserves the integrity of the reading frame. ClinVar contains an entry for this variant (Variation ID: 805323). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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