ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.2248G>A (p.Val750Met)

dbSNP: rs374091667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997226 SCV002236510 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170131 SCV003865198 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2248G>A (p.V750M) alteration is located in exon 15 (coding exon 15) of the LONP1 gene. This alteration results from a G to A substitution at nucleotide position 2248, causing the valine (V) at amino acid position 750 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001997226 SCV004023958 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801103 SCV005423049 uncertain significance not specified 2024-10-31 criteria provided, single submitter clinical testing Variant summary: LONP1 c.2248G>A (p.Val750Met) results in a conservative amino acid change located in the Peptidase S16, Lon proteolytic domain (IPR008269) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 250712 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2248G>A in individuals affected with CODAS Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1448789). Based on the evidence outlined above, the variant was classified as uncertain significance.

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