ClinVar Miner

Submissions for variant NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)

dbSNP: rs1553759059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644583 SCV000766283 pathogenic Cerebral cavernous malformation 3 2017-12-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PDCD10 are known to be pathogenic (PMID: 15543491, 23801932). This variant has not been reported in the literature in individuals with PDCD10-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr170*) in the PDCD10 gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV000721809 SCV000852950 likely pathogenic not provided 2015-04-21 criteria provided, single submitter clinical testing

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