ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.942A>G (p.Ile314Met)

gnomAD frequency: 0.00003  dbSNP: rs774489558
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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 RCV001925553 SCV002181114 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 314 of the ALG6 protein (p.Ile314Met). This variant is present in population databases (rs774489558, gnomAD 0.007%). 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: 1412811). 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 not expected to disrupt ALG6 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691466 SCV005186730 uncertain significance not provided criteria provided, single submitter not provided

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