ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447872 SCV004175792 likely pathogenic Striatonigral degeneration, childhood-onset 2023-02-14 criteria provided, single submitter clinical testing The stop gained c.921C>A(p.Cys307Ter) variant in VAC14 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.921C>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The nucleotide change c.921C>A in VAC14 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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