ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.912G>A (p.Lys304=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000963 SCV001158062 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-07 criteria provided, single submitter clinical testing The MEN1 c.912G>A; p.Lys304Lys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous variant in a highly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by disrupting the canonical splice donor site of intron 6, which is likely to disrupt gene function. However, given the lack of clinical and functional data, the significance of the p.Lys304Lys variant is uncertain at this time.
Ambry Genetics RCV001018904 SCV001180199 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-19 criteria provided, single submitter clinical testing Last nucleotide of exon;Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position

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