Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000185855 | SCV000238806 | uncertain significance | not provided | 2012-07-12 | criteria provided, single submitter | clinical testing | p.Met255Leu (ATG>CTG): c.763 A>C in exon 9 of the DLD gene (NM_000108.3) Mitochondrial disorders caused by mutations in the DLD gene are inherited in an autosomal recessive fashion. The M255L missense substitution in the DLD gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that Methionine and Leucine are both uncharged, non-polar amino acids. This change occurs at a conserved position in the DLD gene. In-silico analyses are not consistent in their predictions as to whether or not M255L is damaging to the DLD protein. Therefore, based on the currently available information it is unclear whether M255L is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Illumina Laboratory Services, |
RCV001086796 | SCV000466236 | uncertain significance | Pyruvate dehydrogenase E3 deficiency | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV000408335 | SCV000466237 | uncertain significance | Leigh syndrome | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV000298315 | SCV000466238 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2018-01-12 | 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. |
Invitae | RCV001086796 | SCV001077775 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001086796 | SCV003834694 | uncertain significance | Pyruvate dehydrogenase E3 deficiency | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001086796 | SCV001463994 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2020-04-16 | no assertion criteria provided | clinical testing |