ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2276T>C (p.Ile759Thr) (rs775313529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004888 SCV001164377 uncertain significance Finnish congenital nephrotic syndrome 2018-12-03 criteria provided, single submitter research The heterozygous p.Ile759Thr variant in NPHS1 was identified by our study in the compound heterozygous state, with a VUS, in one individual with nephrotic syndrome. The p.Ile759Thr variant in NPHS1 has not been previously reported in individuals with nephrotic syndrome but was seen in 0.01299% (4/30782) of South Asian chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs775313529). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ile759Thr variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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