Submissions for variant NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)

gnomAD frequency: 0.00824  dbSNP: rs61735393

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000515075	SCV000170151	benign	not provided	2018-12-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 22995991, 26764160)
PreventionGenetics, part of Exact Sciences	RCV000126642	SCV000312208	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000126642	SCV000539545	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: HGMD entry based on exitence in disease database and personal communication (http://fmf.igh.cnrs.fr/ISSAID/infevers/detail_mutation.php), reportedly identified in patient(s) with psioriasis, but no inofmration is available. MAF 1.2%.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999782	SCV000604115	benign	Majeed syndrome	2023-08-30	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515075	SCV000609834	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Invitae	RCV000999782	SCV000645165	benign	Majeed syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999782	SCV001285471	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262727	SCV002543542	benign	Autoinflammatory syndrome	2022-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000515075	SCV002545986	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	LPIN2: BS1, BS2
Genetics and Molecular Pathology, SA Pathology	RCV000999782	SCV002761407	likely benign	Majeed syndrome	2019-12-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000515075	SCV001799363	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000126642	SCV001929977	benign	not specified		no assertion criteria provided	clinical testing