ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2541del (p.Lys848fs) (rs1555761997)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588161 SCV000698501 likely pathogenic Finnish congenital nephrotic syndrome 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The c.2541delT (p.Lys848Argfs) variant in NPHS1 gene is a frameshift change that results in the loss of the 338 amino acids of nephrin protein (~25%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (122798 and 275468 chrs tested, respectively). The c.2541delT has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taking together, the variant was classified as Likely Pathogenic.

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