ClinVar Miner

Submissions for variant NM_206943.4(LTBP1):c.2959G>A (p.Gly987Arg)

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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 RCV004818906 SCV005438875 uncertain significance Cutis laxa, autosomal recessive, type 2E criteria provided, single submitter clinical testing The observed missense c.2959G>Ap.Gly987Arg variant in LTBP1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Gly987Arg variant is present with allele frequency of 0.0004% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. SpliceAI predicts this variant to cause splice donor gain 0.56. The reference amino acid change at this position on LTBP1 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 987 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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