ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.680+2T>G

gnomAD frequency: 0.00001  dbSNP: rs868768232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. 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

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