ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1456del (p.Arg486fs)

dbSNP: rs768823564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046683 SCV002108379 uncertain significance ALG12-congenital disorder of glycosylation 2022-07-21 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ALG12 gene (p.Arg486Glyfs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the ALG12 protein and extend the protein by 43 additional amino acid residues. This variant is present in population databases (rs768823564, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1348932). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003332350 SCV004039854 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein elongation as the last 3 amino acids are replaced with 46 different amino acids; Has not been previously published as pathogenic or benign to our knowledge

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