ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)

gnomAD frequency: 0.00001  dbSNP: rs777270726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649529 SCV000771358 uncertain significance Rafiq syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 633 of the MAN1B1 protein (p.Val633Phe). This variant is present in population databases (rs777270726, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of MAN1B1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 539744). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV000649529 SCV001520191 uncertain significance Rafiq syndrome criteria provided, single submitter clinical testing

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