ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)

gnomAD frequency: 0.00016  dbSNP: rs142716964
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397460 SCV000426546 uncertain significance Leigh syndrome 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV000291718 SCV000426547 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-01-13 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.
GeneDx RCV001824308 SCV002073975 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001841256 SCV002102458 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2022-02-22 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM3, PM2_SUP, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001824308 SCV003515696 uncertain significance not provided 2023-06-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. ClinVar contains an entry for this variant (Variation ID: 333780). This variant has not been reported in the literature in individuals affected with NDUFS1-related conditions. This variant is present in population databases (rs142716964, gnomAD 0.04%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 669 of the NDUFS1 protein (p.Asn669Ser).
Baylor Genetics RCV001841256 SCV003836365 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2022-04-28 criteria provided, single submitter clinical testing

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