Submissions for variant NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)

gnomAD frequency: 0.00045  dbSNP: rs149862905

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126648	SCV000170157	benign	not specified	2013-03-11	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	RCV001000079	SCV000884082	likely benign	Majeed syndrome	2021-09-03	criteria provided, single submitter	clinical testing
Invitae	RCV001000079	SCV001021108	likely benign	Majeed syndrome	2023-12-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000079	SCV001284380	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262729	SCV002543568	uncertain significance	Autoinflammatory syndrome	2018-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945131	SCV004762618	likely benign	LPIN2-related disorder	2021-11-12	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).