Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV000023374 | SCV002060247 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2021-11-16 | criteria provided, single submitter | clinical testing | NM_013339.3(ALG6):c.680+2T>G is a canonical splice variant classified as likely pathogenic in the context of congenital disorder of glycosylation type Ic. c.680+2T>G has been observed in cases with relevant disease (PMID: 16007612, 27287710). Functional assessments of this variant are not available in the literature. c.680+2T>G has been observed in population frequency databases (gnomAD: OTH 0.02%). NM_013339.3(ALG6):c.680+2T>G is a canonical splice variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV000023374 | SCV003522757 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant is also known as IVS7+2T>G. This sequence change affects a donor splice site in intron 8 of the ALG6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (no rsID available, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with congenital disorder of glycosylation (PMID: 16007612). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 30421). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000023374 | SCV004197177 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-08-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023374 | SCV000044665 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2005-08-15 | no assertion criteria provided | literature only |