Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001917888 | SCV002168713 | 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 | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 108 of the CHCHD10 protein (p.Gln108Pro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features ofCHCHD10-related conditions (PMID: 29789341). ClinVar contains an entry for this variant (Variation ID: 1399846). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CHCHD10 function (PMID: 29789341). 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. |
| Ambry Genetics | RCV003365529 | SCV004055410 | uncertain significance | Inborn genetic diseases | 2023-07-21 | criteria provided, single submitter | clinical testing | The c.323A>C (p.Q108P) alteration is located in exon 3 (coding exon 3) of the CHCHD10 gene. This alteration results from a A to C substitution at nucleotide position 323, causing the glutamine (Q) at amino acid position 108 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |