ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.82G>C (p.Ala28Pro)

dbSNP: rs750342592
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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 RCV001317788 SCV001508463 uncertain significance ALG3-congenital disorder of glycosylation 2020-08-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with ALG3-related conditions. This variant is present in population databases (rs750342592, ExAC 0.02%). This sequence change replaces alanine with proline at codon 28 of the ALG3 protein (p.Ala28Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.

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