ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1A>G (p.Met1Val) (rs202204627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000483713 SCV000559283 benign not provided 2019-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000483713 SCV000570795 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LGI1 gene. The c.1 A>G variant has been reported previously in an individual with early infantile epileptic encephalopathy; however, parental testing was not performed (Trump et al., 2016). The c.1 A>G variant is observed in 31/6560 (0.5%) alleles from individuals of Finnish background in large population cohorts, which is greater than expected for this disorder (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if a protein is produced using an alternative Methionine initiator codon. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant."

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