Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003064644 | SCV003444370 | uncertain significance | Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance | 2022-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 23 of the CHCHD10 protein (p.Pro23Thr). 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. Experimental studies have shown that this missense change does not substantially affect CHCHD10 function (PMID: 29789341). 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with frontotemporal lobar degeneration (PMID: 25833818). This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV003358063 | SCV004072551 | uncertain significance | Inborn genetic diseases | 2023-06-21 | criteria provided, single submitter | clinical testing | The c.67C>A (p.P23T) alteration is located in exon 2 (coding exon 2) of the CHCHD10 gene. This alteration results from a C to A substitution at nucleotide position 67, causing the proline (P) at amino acid position 23 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |