ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1144G>A (p.Val382Ile)

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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 RCV003830006 SCV004629205 uncertain significance not provided 2023-02-09 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. 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 expected to disrupt AFG3L2 protein function. This variant has not been reported in the literature in individuals affected with AFG3L2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 382 of the AFG3L2 protein (p.Val382Ile).
Ambry Genetics RCV004366827 SCV004869907 uncertain significance Inborn genetic diseases 2023-11-15 criteria provided, single submitter clinical testing The c.1144G>A (p.V382I) alteration is located in exon 9 (coding exon 9) of the AFG3L2 gene. This alteration results from a G to A substitution at nucleotide position 1144, causing the valine (V) at amino acid position 382 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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