ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)

dbSNP: rs1553776921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537956 SCV000651559 pathogenic Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2017-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1592Alafs*7) in the LAMB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another LAMB2 variant in an individual affected with Pierson syndrome (PMID: 25937001). Loss-of-function variants in LAMB2 are known to be pathogenic (PMID: 15367484). For these reasons, this variant has been classified as Pathogenic.

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