ClinVar Miner

Submissions for variant NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala)

gnomAD frequency: 0.00001  dbSNP: rs864321632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000203507 SCV002059046 pathogenic Nephrotic syndrome, type 11 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NUP107 related disorder (ClinVar ID: VCV000219127, PMID:26411495, PS1_P). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 26411495, PM3_S) and it was co-segregated with Nephrotic syndrome, type 11 in multiple affected family members (PMID: 26411495, PP1_P). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (, PS3_S). A missense variant is a common mechanism associated with Nephrotic syndrome (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000203507 SCV000258610 pathogenic Nephrotic syndrome, type 11 2015-10-01 no assertion criteria provided literature only

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