ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.470-3C>T

gnomAD frequency: 0.00002  dbSNP: rs751546611
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001526473 SCV001736894 uncertain significance ALG12-congenital disorder of glycosylation 2021-05-26 criteria provided, single submitter research ACMG codes:PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001526473 SCV002193058 uncertain significance ALG12-congenital disorder of glycosylation 2021-06-29 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the ALG12 gene. It does not directly change the encoded amino acid sequence of the ALG12 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs751546611, ExAC 0.02%). This variant has not been reported in the literature in individuals with ALG12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1172555). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Revvity Omics, Revvity RCV001526473 SCV003826151 uncertain significance ALG12-congenital disorder of glycosylation 2021-04-20 criteria provided, single submitter clinical testing

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