Total submissions: 1
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. |