ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.5979del (p.Gly1994fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002618726 SCV002961082 pathogenic not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1994Alafs*53) 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). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PLCE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1929666). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005042925 SCV005678417 pathogenic Nephrotic syndrome, type 3 2024-04-23 criteria provided, single submitter clinical testing

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