ClinVar Miner

Submissions for variant NM_001010867.3(IBA57):c.[167G>A];[826C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000501002 SCV000590910 likely pathogenic Multiple mitochondrial dysfunctions syndrome 3 2017-08-02 no assertion criteria provided clinical testing The variant c.167G>A (p.R56H) is not reported in either1000 Genomes or ExAC databases.The in silico predictions of the variant are probably damaging by PolyPhen-2 and damaging by SIFT, LRT and MutationTaster2. The variant c.826C>T (p.R276C) has not been reported in 1000 Genomes databases and has a minor allele frequency of 0.013% in the ExAC database. The in silico predictions of the variant are probably damaging by PolyPhen-2 and damaging by SIFT, LRT and MutationTaster2.

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