ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131453 SCV003816390 uncertain significance Cobblestone lissencephaly without muscular or ocular involvement 2019-03-13 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003131453 SCV005438700 uncertain significance Cobblestone lissencephaly without muscular or ocular involvement 2023-07-22 criteria provided, single submitter clinical testing The observed missense c.2960C>Tp.Pro987Leu variant in LAMB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Pro at position 987 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro987Leu in LAMB1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence Polyphen - Possibly 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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