ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.6742_6745del (p.Lys2248fs)

dbSNP: rs747833630
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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 RCV001383386 SCV001582518 pathogenic not provided 2022-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2248Alafs*28) 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 (rs747833630, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PLCE1-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001383386 SCV005376186 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 55 amino acids are replaced with 27 different amino acids; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17086182, 20591883)

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