ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3109+1G>T (rs888830612)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612771 SCV000712238 likely pathogenic Pierson syndrome 2016-07-08 criteria provided, single submitter clinical testing The c.3109+1G>T variant in LAMB2 has not been reported in individuals with disea se and was absent from large population studies. This variant occurs in the inva riant region (+/- 1,2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. A variant affecting the same invariant region in intron 21 has been reported in a patient with Pier son syndrome (Machuca 2010). Biallelic loss of function variants in LAMB2 are a ssociated with Pierson syndrome. In summary, although additional studies are nee ded to confirm its significance, this variant is likely pathogenic.

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