ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1185+18C>T

dbSNP: rs780329058
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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 RCV002123811 SCV002447737 benign Multiple endocrine neoplasia, type 1 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337347 SCV002634602 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing The c.1185+18C>T intronic variant results from a C to T substitution 18 nucleotides after coding exon 7 in the MEN1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.05% (greater than 1,900 alleles tested) in our clinical cohort. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct experimental evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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