ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter)

dbSNP: rs267606955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514120 SCV003439649 pathogenic not provided 2022-02-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 18424). This premature translational stop signal has been observed in individual(s) with nephrotic syndrome (PMID: 18709391, 20591883). This variant is present in population databases (rs267606955, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg1246*) in the PLCE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLCE1 are known to be pathogenic (PMID: 17086182, 20591883). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002444 SCV000022602 pathogenic Nephrotic syndrome, type 3 2010-07-01 no assertion criteria provided literature only

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