ClinVar Miner

Submissions for variant NM_144696.6(AXDND1):c.3032-1891_3032-1890del (rs749740335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169166 SCV000220394 likely pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2014-06-08 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730521 SCV000858264 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781677 SCV000919905 pathogenic Idiopathic nephrotic syndrome 2018-10-01 criteria provided, single submitter clinical testing Variant summary: NPHS2 c.855_856delAA (p.Arg286ThrfsX17) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 6.5e-05 in 275798 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in NPHS2 causing Nephrotic Syndrome, Type 2 (6.5e-05 vs 0.0018), allowing no conclusion about variant significance. c.855_856delAA has been reported in the literature in multiple individuals affected with Steroid Resistant Nephrotic Syndrome. These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000169166 SCV000025877 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2000-04-01 no assertion criteria provided literature only

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