ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) (rs1554169392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000578192 SCV000845720 uncertain significance Spastic paraplegia 77, autosomal recessive 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV001341117 SCV001534967 uncertain significance Combined oxidative phosphorylation deficiency 14 2020-02-17 criteria provided, single submitter clinical testing This variant, c.521_523del, results in the deletion of 1 amino acid(s) of the FARS2 protein (p.Val174del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 29126765). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
OMIM RCV000578192 SCV000680040 pathogenic Spastic paraplegia 77, autosomal recessive 2018-01-30 no assertion criteria provided literature only

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