ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)

dbSNP: rs768323491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002479463 SCV001522480 pathogenic Cobblestone lissencephaly without muscular or ocular involvement 2019-02-13 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001964589 SCV002203002 pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with LAMB1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg397*) in the LAMB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB1 are known to be pathogenic (PMID: 23472759, 25925986).

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