ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp)

dbSNP: rs1569498896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283761 SCV002572821 likely pathogenic X-linked Alport syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.83). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COL4A5-related disorder (PMID: 24304881). A different missense change at the same codon (p.Gly1018Cys) has been reported to be associated with COL4A5-related disorder (ClinVar ID: VCV000829934). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Department of Human Genetics, Hannover Medical School RCV002283761 SCV005088707 likely pathogenic X-linked Alport syndrome 2024-07-30 criteria provided, single submitter clinical testing

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