ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)

gnomAD frequency: 0.00008  dbSNP: rs1127511
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV000985180 SCV001571511 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 4 criteria provided, single submitter clinical testing Previously reported in ClinVar (VCV000800963). No evidence for splicing abnormalities induced by the c.1312C>A variant.
Invitae RCV001858613 SCV002178493 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 438 of the NDUFV1 protein (p.Leu438Met). This variant is present in population databases (rs1127511, gnomAD 0.08%). This missense change has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 28454995). ClinVar contains an entry for this variant (Variation ID: 800963). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NDUFV1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000985180 SCV002799598 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 4 2022-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549636 SCV003745547 uncertain significance Inborn genetic diseases 2021-10-15 criteria provided, single submitter clinical testing (Alfares, 2017) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000985180 SCV003813542 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 4 2021-09-08 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985180 SCV001133195 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 4 2019-09-26 no assertion criteria provided clinical testing

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