ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)

dbSNP: rs201422605
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001108877 SCV001266164 uncertain significance Nephrotic syndrome, type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics RCV001288671 SCV001475952 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV001108877 SCV001527902 uncertain significance Nephrotic syndrome, type 3 2018-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001288671 SCV001988408 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing Reported in an individual with steroid resistant nephrotic syndrome in published literature, but it was not clear if this individual had a variant on their other PLCE1 allele (PMID: 28780565); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28780565, 33230300, 35368817)
Labcorp Genetics (formerly Invitae), Labcorp RCV001288671 SCV003256371 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001288671 SCV005190930 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV001288671 SCV005412177 uncertain significance not provided 2023-08-08 criteria provided, single submitter clinical testing BS1

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