Submissions for variant NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile)

gnomAD frequency: 0.00014  dbSNP: rs142050639

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000296595	SCV000373642	uncertain significance	Mitochondrial complex I deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349342	SCV000373643	uncertain significance	Leigh syndrome	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000416264	SCV000493687	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002520743	SCV003706080	uncertain significance	Inborn genetic diseases	2022-08-02	criteria provided, single submitter	clinical testing	The c.1188G>A (p.M396I) alteration is located in exon 9 (coding exon 9) of the NDUFV1 gene. This alteration results from a G to A substitution at nucleotide position 1188, causing the methionine (M) at amino acid position 396 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000416264	SCV003932286	uncertain significance	not provided	2023-02-02	criteria provided, single submitter	clinical testing	PM2
Mayo Clinic Laboratories, Mayo Clinic	RCV000416264	SCV000802793	uncertain significance	not provided	2016-02-26	no assertion criteria provided	clinical testing