ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.2065G>T (p.Glu689Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004765305 SCV005374714 pathogenic Rafiq syndrome criteria provided, single submitter clinical testing In-silico tools (CADD_phred, GERP, MutationTaster) are predicting the variant to be affecting the MAN1B1 protein function. This variant is likely to result in premature truncation of the transcript which can lead to either nonsense-mediated mRNA decay or the formation of a truncated MAN1B1 protein product. The clinical features observed in the proband are in concordance with Rafiq syndrome.

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