ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)

gnomAD frequency: 0.00172  dbSNP: rs75442795
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117587 SCV000151809 likely benign not specified 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313906 SCV000847894 benign Inborn genetic diseases 2016-09-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000985090 SCV001050116 likely benign Rafiq syndrome 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000985090 SCV001330245 likely benign Rafiq syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
PreventionGenetics, part of Exact Sciences RCV003925143 SCV004740382 likely benign MAN1B1-related condition 2020-12-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985090 SCV001133052 likely pathogenic Rafiq syndrome 2019-09-26 flagged submission clinical testing

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