Submissions for variant NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)

gnomAD frequency: 0.00142  dbSNP: rs80338805

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000755296	SCV000279000	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20301735, 26764160)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000020710	SCV000604121	likely benign	Majeed syndrome	2023-01-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020710	SCV000645179	likely benign	Majeed syndrome	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755296	SCV000892503	likely benign	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000020710	SCV000898800	uncertain significance	Majeed syndrome	2021-03-30	criteria provided, single submitter	clinical testing	LPIN2 NM_014646.2 exon 7 p.Ala331Ser (c.991G>T): This variant has been reported in the Hereditary Auto-inflammatory Disorders database in 1 individual with psoriasis (http://fmf.igh.cnrs.fr/ISSAID/infevers/). However, this variant is present in 0.4% (147/34416) of Latino alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs80338805). This variant is present in ClinVar (Variation ID:21520). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Laboratory Services, Illumina	RCV000020710	SCV001286116	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262570	SCV002543279	likely benign	Autoinflammatory syndrome	2022-02-22	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020710	SCV000041269	not provided	Majeed syndrome		no assertion provided	literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000020710	SCV000116195	not provided	Majeed syndrome		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000755296	SCV001740967	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000755296	SCV001930487	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982845	SCV004796383	likely benign	LPIN2-related disorder	2023-04-20	no assertion criteria provided	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).