Submissions for variant NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser)

dbSNP: rs863223888

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000992835	SCV000251079	uncertain significance	not provided	2023-10-20	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Athena Diagnostics	RCV000992835	SCV001145397	uncertain significance	not provided	2018-08-27	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV004765321	SCV005375264	uncertain significance	Optic atrophy 12	2024-10-13	criteria provided, single submitter	clinical testing	This variant (GRCh38; NM_006796.3:c.463G>A:p.Gly155Ser) results in a missense mutation with the conversion of Glycine (Polar amino acid) to Serine (Polar amino acid) in the AFG3L2 protein. Not observed at significant frequency in large population cohorts (gnomAD). Multiple lines of computational evidence of this variant suggest no impact of this variant on gene or gene product. A literature search was performed for the gene and associated variants. Based on this search no publications were found. Based on conflicting evidence or insufficient data to determine whether the variant is benign or pathogenic, the clinical significance of this alteration remains unclear. In summary, this variant meets our criteria for classification as of Unknown Clinical Significance based on the evidence outlined.