ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) (rs149323691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198881 SCV000251901 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing The S5P variant in the NDUFS4 gene is of unknown significance. The S5P missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a polar Serine is replaced by a non-polar Proline with a unique ring structure that could affect the secondary structure of the NDUFS4 protein. This change occurs at a highly conserved position in the NDUFS4 protein. In-silico analyses are not consistent in their predictions of whether or not S5P is damaging to the NDUFS4 protein. Therefore, based on the currently available information, it is unclear whether S5P is a disease-causing mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000295911 SCV000457882 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329830 SCV000457883 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660466 SCV000782561 uncertain significance Mitochondrial complex I deficiency; Leigh syndrome 2016-12-22 criteria provided, single submitter clinical testing

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