Submissions for variant NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)

gnomAD frequency: 0.00120  dbSNP: rs141493373

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123682	SCV000167025	benign	not specified	2014-06-09	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.
Illumina Laboratory Services, Illumina	RCV000407383	SCV000479616	uncertain significance	Coenzyme Q10 deficiency, Oculomotor Apraxia Type	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000612640	SCV000479617	uncertain significance	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	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.
CeGaT Center for Human Genetics Tuebingen	RCV000513413	SCV000609335	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000123682	SCV000612400	likely benign	not specified	2021-03-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000513413	SCV000802614	uncertain significance	not provided	2021-04-16	criteria provided, single submitter	clinical testing
Invitae	RCV000513413	SCV002398418	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905189	SCV004736767	likely benign	APTX-related condition	2020-09-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612640	SCV000734693	likely benign	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000513413	SCV001931712	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000123682	SCV001975978	benign	not specified		no assertion criteria provided	clinical testing