ClinVar Miner

Submissions for variant NM_001134232.2(TMEM106B):c.167G>T (p.Arg56Ile)

gnomAD frequency: 0.00001  dbSNP: rs1193564382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338010 SCV004048522 uncertain significance Leukodystrophy, hypomyelinating, 16 criteria provided, single submitter clinical testing The missense variant c.167G>T (p.Arg56Ile) in TMEM106B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg56Ile variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.0007956% is reported in gnomAD. The amino acid Arg at position 56 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Arg56Ile in TMEM106B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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