ClinVar Miner

Submissions for variant NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)

dbSNP: rs1750958862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV001253781 SCV001427072 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2019-08-16 no assertion criteria provided clinical testing The p.Gln715* variant in the TBCK gene was identified in homozygous state in this individual, but has not been previously reported in association with disease. This variant leads to a premature stop codon in exon 23 of 26 coding exons, and is therefore predicted to undergo nonsense-mediated decay resulting in a truncated or absent protein. The p.Gln715* variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Gln715* variant as pathogenic for autosomal recessive TBCK-associated neurodevelopmental disorder based on the information above. [ACMG evidence codes used: PVS1, PM2, PM3_Supporting]

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