ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)

gnomAD frequency: 0.00001  dbSNP: rs1407217511
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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 RCV001059196 SCV001223811 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 13 of the ALG6 protein (p.Ile13Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. ClinVar contains an entry for this variant (Variation ID: 854201). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001059196 SCV002092708 uncertain significance ALG6-congenital disorder of glycosylation 1C 2020-10-01 no assertion criteria provided clinical testing

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