ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) (rs140249737)

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Total submissions: 3
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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 2018-07-03 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 2019-12-31 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

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