ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)

dbSNP: rs538804415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291806 SCV001480427 uncertain significance Rafiq syndrome 2020-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001291806 SCV003299273 uncertain significance Rafiq syndrome 2022-04-09 criteria provided, single submitter clinical testing This variant, c.129_134del, results in the deletion of 2 amino acid(s) of the MAN1B1 protein (p.Pro44_Pro45del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766871551, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MAN1B1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004035585 SCV004901055 uncertain significance Inborn genetic diseases 2021-05-24 criteria provided, single submitter clinical testing The c.129_134delGCCGCC (p.P44_P45del) alteration is located in exon 1 (coding exon 1) of the MAN1B1 gene. This alteration consists of an in-frame deletion of 6 nucleotides between nucleotide positions c.129 and c.134, resulting in the deletion of 2 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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