ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.604A>G (p.Asn202Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314416 SCV004013742 likely pathogenic Focal segmental glomerulosclerosis 5 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: 0.71; 3Cnet: 0.93). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with INF2 related disorder (PMID: 21866090). A different missense change at the same codon (p.Asn202Ser) has been reported to be associated with INF2 -related disorder (ClinVar ID: VCV001697256 / PMID: 21415313). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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