ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.685C>A (p.Arg229=)

gnomAD frequency: 0.00001  dbSNP: rs1057516414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504742 SCV001709628 likely benign not provided 2022-05-18 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003994295 SCV004812853 uncertain significance Steroid-resistant nephrotic syndrome 2023-08-01 criteria provided, single submitter clinical testing This sequence change is a synonymous (silent) variant in exon 5 of NPHS2 that has an uninformative predicted impact on splicing (SpliceAI). The highest population minor allele frequency in the population database gnomAD v2.1 is 0.01% (2/18,380 alleles) in the East Asian population, consistent with recessive disease. To our knowledge, this variant has not been previously reported in the relevant scientific literature. This variant has been observed with a pathogenic variant c.871C>T, p.(Arg291Trp) (ClinVar ID: 5369) in an individual with nephrotic syndrome (Melbourne Health Pathology). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, PM3_Supporting.

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