ClinVar Miner

Submissions for variant NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)

gnomAD frequency: 0.00001  dbSNP: rs1449758112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578437 SCV000680408 pathogenic 3-methylglutaconic aciduria type 9 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529040 SCV003616989 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.1024C>T (p.R342W) alteration is located in exon 9 (coding exon 9) of the TIMM50 gene. This alteration results from a C to T substitution at nucleotide position 1024, causing the arginine (R) at amino acid position 342 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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