ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1365+1_1365+11del (rs764570645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182441 SCV000234786 pathogenic not provided 2014-05-21 criteria provided, single submitter clinical testing The c.1350+1_1350+11delGTGAGGGACAG splice site mutation in the MEN1 gene has been previously reported in association with multiple endocrine neoplasia type 1 (Mutch et al., 1999). Using capital letters to denote exonic sequence and lower case letters to denote intronic sequence, the normal sequence with the bases that are deleted in braces is: ACAG{del gtgagggacag}ctgc. This mutation destroys the canonical splice donor site in intron 9, and is expected to cause abnormal gene splicing. The variant is found in MEN1 panel(s).
Invitae RCV000632087 SCV000753191 pathogenic Multiple endocrine neoplasia, type 1 2019-05-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the MEN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with multiple endocrine neoplasia, type 1 (PMID: 9709921, 10090472). This variant has also been reported as c.1452del11. ClinVar contains an entry for this variant (Variation ID: 201001). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.

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