ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)

gnomAD frequency: 0.00031  dbSNP: rs145602077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291734 SCV001480325 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 4 2019-10-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333608 SCV001526248 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-10-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001587322 SCV001817015 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001587322 SCV003475839 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 405 of the NDUFV1 protein (p.Arg405Trp). This variant is present in population databases (rs145602077, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with NDUFV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 996909). 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.
Revvity Omics, Revvity RCV001291734 SCV003813543 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 4 2019-05-08 criteria provided, single submitter clinical testing

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