ClinVar Miner

Submissions for variant NM_183065.4(TMEM107):c.*745C>G

dbSNP: rs746503581
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001194477 SCV001426454 likely pathogenic Leukoencephalopathy with calcifications and cysts 2020-01-30 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001194477 SCV004035174 uncertain significance Leukoencephalopathy with calcifications and cysts 2023-08-25 criteria provided, single submitter research
Invitae RCV003558749 SCV004296734 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This variant occurs in the SNORD118 gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individuals with leukoencephalopathy (PMID: 27571260, 33029936). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 929265). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine RCV001194477 SCV001364102 pathogenic Leukoencephalopathy with calcifications and cysts 2020-04-06 no assertion criteria provided clinical testing

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