ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.698G>T (p.Gly233Val)

dbSNP: rs1569490592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000714354 SCV002011999 likely pathogenic X-linked Alport syndrome 2021-10-02 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with supporting evidence (PMID: 24033287, PS1_P). The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). A different missense change at the same codon (p.Gly233Ala) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000562428.1, PM5). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97 PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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