ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)

gnomAD frequency: 0.00051  dbSNP: rs34676691
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000859343 SCV000292605 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 26386126, 20301735)
Invitae RCV000020708 SCV000645157 benign Majeed syndrome 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000859343 SCV001151452 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing LPIN2: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000020708 SCV001159758 likely benign Majeed syndrome 2023-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020708 SCV001282579 likely benign Majeed syndrome 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262569 SCV002543245 likely benign Autoinflammatory syndrome 2021-12-23 criteria provided, single submitter clinical testing
GeneReviews RCV000020708 SCV000041265 not provided Majeed syndrome no assertion provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000859343 SCV001799725 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000859343 SCV001927324 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000859343 SCV001964667 likely benign not provided no assertion criteria provided clinical testing

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