Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000623844 | SCV000742988 | likely pathogenic | Inborn genetic diseases | 2017-09-29 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected |
| Invitae | RCV000695954 | SCV000824495 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2019-07-18 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the B3GALNT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs757347274, ExAC 0.009%). This variant has not been reported in the literature in individuals with B3GALNT2-related disease. ClinVar contains an entry for this variant (Variation ID: 522103). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV000695954 | SCV000893980 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2018-10-31 | criteria provided, single submitter | clinical testing |