ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.1077C>T (p.Gly359=)

gnomAD frequency: 0.00061  dbSNP: rs116558260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088414 SCV000654634 benign Charcot-Marie-Tooth disease type 2R 2023-12-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756804 SCV000884720 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing The c.996C>T variant (rs116558260) has not been reported in the medical literature, and is not listed in gene-specific variant databases. The c.996C>T variant is also listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.18% in the African population (identified in 43 out of 23,970 chromosomes). The cytosine at nucleotide 996 is weakly conserved, but computational analyses predict that this variant creates a cryptic splice donor site (Alamut software v2.10.0). Therefore, based on the available information, the clinical significance of the c.996C>T variant cannot be determined with certainty.
GeneDx RCV000756804 SCV001986968 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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