ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314291 SCV004013501 likely pathogenic X-linked Alport syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PMID: 27627812). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.91; 3Cnet: 0.97). Different nucleotide change resulting in same amino acid change has been previously reported to be associated with COL4A5 related disorder (ClinVar ID: VCV001495185). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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