Submissions for variant NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV003448885	SCV004176709	uncertain significance	Anterior segment dysgenesis 6	2023-03-01	criteria provided, single submitter	clinical testing	The missense c.92C>A (p.Ala31Asp) variant in CYP1B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala31Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Ala31Asp in CYP1B1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ala at position 31 is changed to a Asp 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).
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	RCV003448885	SCV005367819	likely pathogenic	Anterior segment dysgenesis 6	2023-02-16	no assertion criteria provided	clinical testing	The missense c.92C>A (p.Ala31Asp) variant in CYP1B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.