Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034848 | SCV000772921 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2022-05-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 268 of the B3GALNT2 protein (p.Val268Met). This variant is present in population databases (rs367543074, gnomAD 0.003%). This missense change has been observed in individual(s) with congenital muscular dystrophy (PMID: 23453667). ClinVar contains an entry for this variant (Variation ID: 41938). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on B3GALNT2 function (PMID: 23453667, 29273094). 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. |
OMIM | RCV000034848 | SCV000058418 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2013-03-07 | no assertion criteria provided | literature only | |
Leiden Muscular Dystrophy pages |
RCV000119389 | SCV000154296 | not provided | not provided | no assertion provided | not provided | ||
Clin |
RCV000034848 | SCV000244035 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2013-06-27 | no assertion criteria provided | literature only |