ClinVar Miner

Submissions for variant NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) (rs1457494794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819510 SCV000960174 uncertain significance Aicardi Goutieres syndrome 2 2019-08-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the RNASEH2B mRNA. The next in-frame methionine is located at codon 31. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with clinical features of RNASEH2B-related conditions (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000819510 SCV001251493 likely pathogenic Aicardi Goutieres syndrome 2 criteria provided, single submitter research The RNASEH2B c.2T>C (p.M1T) variant is predicted to result in the loss of a start codon corresponding to the first amino acid of the RNASEH2B protein, which may lead to an aberrant protein.

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