ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.391G>T (p.Gly131Ter)

dbSNP: rs2148416970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390842 SCV001592705 pathogenic not provided 2020-02-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly131*) in the PCARE gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PCARE-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393).

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