ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) (rs141400889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195680 SCV000251942 uncertain significance not provided 2014-04-07 criteria provided, single submitter clinical testing p.Arg267Lys (AGA>AAA): c.800 G>A in exon 6 of the NDUFV1 gene (NM_007103.3). A variant of unknown significance has been identified in the NDUFV1 gene. The R267K missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R267K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a highly conserved position in the NDUFV1 protein. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether R267K is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000390228 SCV000373624 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294572 SCV000373625 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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