Submissions for variant NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)

gnomAD frequency: 0.00021  dbSNP: rs140249737

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768259	SCV000898798	uncertain significance	Majeed syndrome	2021-03-30	criteria provided, single submitter	clinical testing	LPIN2 NM_014646.2 exon 19 p.Asp815= (c.2445T>C): This variant has not been reported in the literature but is present in 21/126718 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140249737). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae	RCV000768259	SCV001013892	likely benign	Majeed syndrome	2023-12-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000768259	SCV001157683	likely benign	Majeed syndrome	2018-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001712746	SCV001942461	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263967	SCV002543562	uncertain significance	Autoinflammatory syndrome	2021-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908077	SCV004723931	likely benign	LPIN2-related disorder	2023-12-30	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).