ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1536A>C (p.Leu512Phe)

gnomAD frequency: 0.00002  dbSNP: rs768121027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440649 SCV000536279 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing The L512F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L512F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L512F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV004022521 SCV004869924 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.1536A>C (p.L512F) alteration is located in exon 12 (coding exon 12) of the AFG3L2 gene. This alteration results from a A to C substitution at nucleotide position 1536, causing the leucine (L) at amino acid position 512 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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