Submissions for variant NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)

gnomAD frequency: 0.00083  dbSNP: rs104895501

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000220059	SCV000279002	benign	not specified	2016-09-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000084066	SCV000604123	benign	Majeed syndrome	2023-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV000084066	SCV000766484	benign	Majeed syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000084066	SCV001281370	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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258259	SCV001435174	benign	Psoriasis		criteria provided, single submitter	research	The heterozygous p.Lys387Glu variant in LPIN2 has been identified in an individual with psoriasis (https://infevers.umai-montpellier.fr/web/), and has been identified in >2% of South Asian chromosomes and 11 homozygotes (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive psoriasis.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262673	SCV002543519	benign	Autoinflammatory syndrome	2021-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003421983	SCV004144751	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	LPIN2: BP4, BS1, BS2
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000084066	SCV000116189	not provided	Majeed syndrome		no assertion provided	not provided