ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1])

dbSNP: rs772978541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001310009 SCV001499530 uncertain significance Multiple endocrine neoplasia, type 1 2024-04-29 criteria provided, single submitter clinical testing This variant, c.1392_1400del, results in the deletion of 3 amino acid(s) of the MEN1 protein (p.Ala465_Ala467del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772978541, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV001310009 SCV004830521 uncertain significance Multiple endocrine neoplasia, type 1 2023-04-03 criteria provided, single submitter clinical testing This variant results in the in-frame deletion of three amino acids in the MEN1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MEN1-related disorders in the literature. This variant has been identified in 1/224844 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004034228 SCV005030374 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-29 criteria provided, single submitter clinical testing The c.1392_1400delGGCCGAGGC variant (also known as p.A465_A467del) is located in coding exon 9 of the MEN1 gene. This variant results from an in-frame GGCCGAGGC deletion at nucleotide positions 1392 to 1400. This results in the in-frame deletion of 3 amino acids (AEA) at codons 465 to 467. This amino acid region is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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