ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)

dbSNP: rs2136089217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381741 SCV001580239 pathogenic Multiple endocrine neoplasia, type 1 2022-07-30 criteria provided, single submitter clinical testing This variant disrupts a region of the MEN1 protein in which other variant(s) (p.Thr580Argfs*8) have been determined to be pathogenic (PMID: 15331604, 16449969; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1069776). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu486*) in the MEN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 125 amino acid(s) of the MEN1 protein.
Myriad Genetics, Inc. RCV001381741 SCV004185971 pathogenic Multiple endocrine neoplasia, type 1 2023-10-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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