ClinVar Miner

Submissions for variant NM_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141264 SCV003823043 uncertain significance Neurodegeneration, childhood-onset, with cerebellar atrophy 2022-03-29 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV003141264 SCV005688760 uncertain significance Neurodegeneration, childhood-onset, with cerebellar atrophy 2024-09-15 criteria provided, single submitter clinical testing The AGTPBP1 c.3206G>T (p.Cys1069Phe) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.17% in the African population. Computational predictors suggest that the variant does not impact AGTPBP1 function. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by one submitter. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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