ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.444dup (p.Asp149fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002631373 SCV002965535 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2022-02-18 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp149Argfs*22) in the PARK7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the PARK7 protein. This variant has not been reported in the literature in individuals affected with PARK7-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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