ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.322C>G (p.His108Asp)

dbSNP: rs2100415489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967955 SCV002217989 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 108 of the ALG6 protein (p.His108Asp). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALG6 protein function. ClinVar contains an entry for this variant (Variation ID: 1441555).

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