ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)

gnomAD frequency: 0.00015  dbSNP: rs200410163
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515020 SCV000610292 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311831 SCV000846249 uncertain significance Inborn genetic diseases 2018-09-30 criteria provided, single submitter clinical testing The p.R196H variant (also known as c.587G>A), located in coding exon 4 of the MAN1B1 gene, results from a G to A substitution at nucleotide position 587. The arginine at codon 196 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001087338 SCV001069645 likely benign Rafiq syndrome 2024-01-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001087338 SCV001368379 benign Rafiq syndrome 2018-10-29 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.

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