ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.94C>G (p.His32Asp)

dbSNP: rs1591025020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802289 SCV002050120 uncertain significance Charcot-Marie-Tooth disease type 4B1 2021-02-04 criteria provided, single submitter clinical testing The MTMR2 c.94C>G; p.His32Asp variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at codon 32 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.431). Given the lack of clinical and functional data, the significance of the p.His32Asp variant is uncertain at this time.

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