ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) (rs187572602)

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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 RCV000368839 SCV000898797 uncertain significance Majeed syndrome 2018-05-22 criteria provided, single submitter clinical testing LPIN2 NM_014646.2 exon 20 p.Pro875= (c.2625G>A): This variant has not been reported in the literature but is present in 0.5% (102/18858) of East Asian alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs187572602). This variant is present in ClinVar (Variation ID:234588). 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. However, splice prediction tools suggest that this variant may create a novel splice site; further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000214928 SCV000279535 likely benign not specified 2018-02-17 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.
Illumina Clinical Services Laboratory,Illumina RCV000368839 SCV000408469 uncertain significance Majeed syndrome 2016-06-14 criteria provided, single submitter clinical testing

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