ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) (rs116558260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549051 SCV000654634 benign Charcot-Marie-Tooth disease, axonal, type 2R 2017-12-08 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.

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