ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.-5+236T>C

gnomAD frequency: 0.00195  dbSNP: rs184505364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000985220 SCV002786568 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2022-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001356090 SCV005188234 uncertain significance not provided criteria provided, single submitter not provided
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985220 SCV001133250 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2019-09-26 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356090 SCV001551155 uncertain significance not provided no assertion criteria provided clinical testing The NDUFS1 p.Leu10Pro variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in dbSNP (ID: rs184505364). The variant was identified in control databases in 111 of 159842 chromosomes at a frequency of 0.000694 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 106 of 14796 chromosomes (freq: 0.007164), Other in 1 of 5092 chromosomes (freq: 0.000196), Latino in 3 of 25204 chromosomes (freq: 0.000119), South Asian in 1 of 22384 chromosomes (freq: 0.000045), while the variant was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), and European (non-Finnish) populations. The p.Leu10 residue is conserved across mammals and other organisms however four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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