ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) (rs771486222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765412 SCV000896696 uncertain significance Majeed syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000274345 SCV000329404 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing The A450T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 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. A450T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species; 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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