Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000186211 | SCV000239237 | uncertain significance | not provided | 2012-10-31 | criteria provided, single submitter | clinical testing | p.Asn185Lys (AAT>AAG): c.555 T>G in exon 3 of the TMEM70 gene (NM_017866.5). The N185K variant in the TMEM70 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This variant is a non-conservative amino acid substitution of a neutral Asparagine with a positively-charged Lysine at a residue that is conserved in mammals. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. We interpret N185K as a variant of unknown significance. The variant is found in MITONUC-MITOP panel(s). |
| Illumina Laboratory Services, |
RCV001088986 | SCV000474929 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 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. |
| Labcorp Genetics |
RCV001088986 | SCV001017583 | likely benign | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV000186211 | SCV005409472 | uncertain significance | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | BS1 |