Submissions for variant NM_004208.4(AIFM1):c.72C>T (p.Cys24=)

gnomAD frequency: 0.00051  dbSNP: rs373609902

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000386138	SCV000481734	benign	Severe X-linked mitochondrial encephalomyopathy	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001085808	SCV000776766	benign	Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000762669	SCV000893004	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	AIFM1: BP4, BP7, BS2
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173138	SCV001336214	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV000762669	SCV001805525	likely benign	not provided	2020-05-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000762669	SCV001744721	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000762669	SCV001917894	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000762669	SCV001931021	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762669	SCV001972304	likely benign	not provided		no assertion criteria provided	clinical testing