ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)

gnomAD frequency: 0.00001  dbSNP: rs752244400
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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 RCV001998971 SCV002276387 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 467 of the ALG6 protein (p.Pro467Ser). This variant is present in population databases (rs752244400, gnomAD 0.002%). 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: 1483811). 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. 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.

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