Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000923575 | SCV001069058 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001103232 | SCV001259962 | uncertain significance | Leigh syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001103233 | SCV001259963 | uncertain significance | Mitochondrial complex I deficiency, nuclear type 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Baylor Genetics | RCV001103232 | SCV001520218 | uncertain significance | Leigh syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000923575 | SCV001782145 | uncertain significance | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV000923575 | SCV004137059 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NDUFS8: BP4, BS2 |
Department of Pathology and Laboratory Medicine, |
RCV000923575 | SCV001548602 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The NDUFS8 p.Pro7Thr variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs142658611) and in control databases in 84 of 282786 chromosomes at a frequency of 0.000297 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 51 of 24972 chromosomes (freq: 0.002042), Other in 6 of 7222 chromosomes (freq: 0.000831), Latino in 23 of 35436 chromosomes (freq: 0.000649), Ashkenazi Jewish in 1 of 10364 chromosomes (freq: 0.000096), South Asian in 1 of 30616 chromosomes (freq: 0.000033) and European (non-Finnish) in 2 of 129102 chromosomes (freq: 0.000015); it was not observed in the East Asian or European (Finnish) populations. The p.Pro7 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |