ClinVar Miner

Submissions for variant NM_001134232.2(TMEM106B):c.322C>G (p.Leu108Val)

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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 RCV004723710 SCV005329438 uncertain significance Leukodystrophy, hypomyelinating, 16 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.322C>G (p.Leu108Val) in TMEM106B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu108Val variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and Mutation Taster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Leu108Val in TMEM106B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 108 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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