ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1939G>A (p.Glu647Lys)

gnomAD frequency: 0.00001  dbSNP: rs149596661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198590 SCV001369580 uncertain significance CODAS syndrome 2019-07-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP3.
Invitae RCV002560250 SCV003499330 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002559267 SCV003744553 uncertain significance Inborn genetic diseases 2021-01-29 criteria provided, single submitter clinical testing The c.1939G>A (p.E647K) alteration is located in exon 13 (coding exon 13) of the LONP1 gene. This alteration results from a G to A substitution at nucleotide position 1939, causing the glutamic acid (E) at amino acid position 647 to be replaced by a lysine (K). The in silico prediction for the p.E647K alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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