ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)

gnomAD frequency: 0.00011  dbSNP: rs373264146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933203 SCV002190083 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV002284224 SCV002573582 uncertain significance Microscopic hematuria 2021-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484498 SCV002794376 uncertain significance Finnish congenital nephrotic syndrome 2024-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752102 SCV005353111 uncertain significance NPHS1-related disorder 2024-09-20 no assertion criteria provided clinical testing The NPHS1 c.1486C>A variant is predicted to result in the amino acid substitution p.Arg496Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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