ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)

gnomAD frequency: 0.00221  dbSNP: rs150022314
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000755295 SCV000279011 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27565549)
Illumina Laboratory Services, Illumina RCV000271785 SCV000408476 likely benign Majeed syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000271785 SCV000604116 likely benign Majeed syndrome 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000271785 SCV000645164 benign Majeed syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000271785 SCV000743505 likely benign Majeed syndrome 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000271785 SCV000744776 likely benign Majeed syndrome 2016-07-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755295 SCV000892501 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing LPIN2: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262818 SCV002543538 benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929921 SCV004737457 likely benign LPIN2-related disorder 2022-07-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000755295 SCV001799347 likely benign not provided no assertion criteria provided clinical testing

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