ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3622G>A (p.Asp1208Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577222 SCV005061139 uncertain significance Donnai-Barrow syndrome criteria provided, single submitter clinical testing The observed missense c.3622G>A(p.Asp1208Asn) variant in LRP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Asp at position 1208 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp1208Asn in LRP2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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