Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195944 | SCV000251278 | likely benign | not specified | 2013-01-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001857727 | SCV002298133 | uncertain significance | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 214241). This missense change has been observed in individual(s) with COQ9-related conditions (PMID: 27629047). This variant is present in population databases (rs757251412, gnomAD 0.04%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 62 of the COQ9 protein (p.His62Tyr). |
Ambry Genetics | RCV002517202 | SCV003728066 | uncertain significance | Inborn genetic diseases | 2021-11-24 | criteria provided, single submitter | clinical testing | The c.184C>T (p.H62Y) alteration is located in exon 2 (coding exon 2) of the COQ9 gene. This alteration results from a C to T substitution at nucleotide position 184, causing the histidine (H) at amino acid position 62 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Biochemical Molecular Genetic Laboratory, |
RCV000985172 | SCV001133179 | likely pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2019-09-26 | no assertion criteria provided | clinical testing |