ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.870G>A (p.Met290Ile)

dbSNP: rs1451322597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002260553 SCV002540231 uncertain significance Intellectual disability, autosomal dominant 57 2021-12-16 criteria provided, single submitter clinical testing The TLK2 c.870G>A (p.Met290Ile) missense variant results in the substitution of methionine at amino acid position 290 with isoleucine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. In silico tools suggest that this variant may be damaging, however this has not been verified experimentally. Based on the available evidence, the c.870G>A (p.Met290Ile) variant is classified as a variant of uncertain significance for TLK2-related neurodevelopmental disorder.

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