ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) (rs777239535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000341576 SCV000408480 uncertain significance Majeed syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000481532 SCV000565737 uncertain significance not provided 2016-05-06 criteria provided, single submitter clinical testing To our knowledge, the A416V variant in the LPIN2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant. The A416V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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