ClinVar Miner

Submissions for variant NR_023343.3(RNU4ATAC):n.40C>T

dbSNP: rs139495292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090268 SCV001245703 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090268 SCV002222702 pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing This variant occurs in the RNU4ATAC gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (rs139495292, gnomAD 0.009%). This variant has been observed in individual(s) with microcephalic osteodysplastic primordial dwarfism (PMID: 26641461, 27040866). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 599282). Functional studies have shown that this variant disrupts ncRNA function (PMID: 32628740) For these reasons, this variant has been classified as Pathogenic.
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000735870 SCV000864076 likely pathogenic Osteodysplastic primordial dwarfism, type 1 2018-01-01 no assertion criteria provided research The same individual also harbours another variant g.122288485G>A in the same gene along with this variant as compound heterozygote
Undiagnosed Diseases Network, NIH RCV004760763 SCV005368700 pathogenic Roifman syndrome 2024-01-05 no assertion criteria provided clinical testing

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