ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.796C>G (p.Leu266Val)

gnomAD frequency: 0.00001  dbSNP: rs766980574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819275 SCV000959925 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 269 of the IVD protein (p.Leu269Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs766980574, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Illumina Laboratory Services, Illumina RCV000819275 SCV001278446 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV003279107 SCV003986665 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.805C>G (p.L269V) alteration is located in exon 8 (coding exon 8) of the IVD gene. This alteration results from a C to G substitution at nucleotide position 805, causing the leucine (L) at amino acid position 269 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000819275 SCV001461293 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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