ClinVar Miner

Submissions for variant NM_018965.4(TREM2):c.*101G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003059670 SCV003354230 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing The TREM2 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001271821.1, and corresponds to NM_018965.3:c.*101G>C in the primary transcript. This variant occurs in a non-coding region of the TREM2 gene. It does not change the encoded amino acid sequence of the TREM2 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TREM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2135653). 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.

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