ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)

dbSNP: rs121918517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288717 SCV001476029 likely pathogenic not provided 2019-11-22 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function
OMIM RCV000014155 SCV000034403 pathogenic Spinocerebellar ataxia type 14 2005-04-12 no assertion criteria provided literature only
GeneReviews RCV000014155 SCV000058578 pathologic Spinocerebellar ataxia type 14 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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