ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) (rs138061928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199891 SCV000251511 uncertain significance not provided 2018-12-28 criteria provided, single submitter clinical testing p.Leu391Val (TTG>GTG): c.1171 T>G in exon 10 of the FOXRED1 gene (NM_017547.3). The L391V missense change has not been published as a mutation or a benign polymorphism to our knowledge. The amino acid change is conservative in that both Leucine and Valine are uncharged, non-polar amino acids. This change occurs at a position in the FOXRED1 gene that is conserved in mammals. The majority of the in-silico models used predict that L391V is damaging to the FOXRED1 protein. Therefore, based on the currently available information it is unclear whether L391V would be a disease causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Fulgent Genetics,Fulgent Genetics RCV000763714 SCV000894594 uncertain significance Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000199891 SCV001016140 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001107765 SCV001264943 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2017-12-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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