ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)

dbSNP: rs34124941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000670157 SCV004191465 pathogenic Finnish congenital nephrotic syndrome 2023-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558504 SCV004297299 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs34124941, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with nephrotic syndrome (PMID: 28117080). ClinVar contains an entry for this variant (Variation ID: 554509). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asp1021Glyfs*6) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988).
Counsyl RCV000670157 SCV000794981 likely pathogenic Finnish congenital nephrotic syndrome 2017-10-24 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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