ClinVar Miner

Submissions for variant NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) (rs1300848445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367110 SCV001563447 uncertain significance not provided 2020-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 217 of the TIMM50 protein (p.Arg217Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy (PMID: 27573165). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 440793). This variant has been reported to have conflicting or insufficient data to determine the effect on TIMM50 protein function (PMID: 27573165). 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 RCV000509033 SCV000606774 pathogenic 3-methylglutaconic aciduria type 9 2021-02-01 no assertion criteria provided literature only

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