ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)

dbSNP: rs386134163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713005 SCV000843569 pathogenic not provided 2024-05-09 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 15964845, 18005063, 19561170, 24744737)
GeneReviews RCV000034990 SCV000058623 pathologic Spinocerebellar ataxia type 14 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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