Submissions for variant NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)

gnomAD frequency: 0.00026  dbSNP: rs139133094

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000268092	SCV000355256	uncertain significance	Autosomal recessive cerebellar ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302272	SCV000355257	uncertain significance	Autosomal recessive ataxia due to ubiquinone deficiency	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.
GeneDx	RCV000710473	SCV000511981	likely benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710473	SCV000840702	benign	not provided	2018-10-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710473	SCV001103398	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710473	SCV004125752	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	COQ8A: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000420661	SCV001925916	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710473	SCV001967695	likely benign	not provided		no assertion criteria provided	clinical testing