ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.3024A>G (p.Arg1008=) (rs1131691606)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712429 SCV000582470 uncertain significance not provided 2018-07-23 criteria provided, single submitter clinical testing The c.3024 A>G variant in the NPHS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.3024 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved. In silico splice prediction models predict that c.3024 A>G may create a cryptic splice donor site in exon 22, which may result in abnormal gene splicing, leading to abnormal protein product. However, in the absence of RNA/functional studies, the actual effect of c.3024 A>G in this individual is unknown. We interpret c.3024 A>G as a variant of uncertain significance.
Athena Diagnostics Inc RCV000712429 SCV000842922 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing

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