ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)

dbSNP: rs376704970
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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 RCV000823145 SCV000963992 uncertain significance ALG8 congenital disorder of glycosylation 2021-11-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 664953). This variant has not been reported in the literature in individuals affected with ALG8-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 431 of the ALG8 protein (p.Ile431Met).
Fulgent Genetics, Fulgent Genetics RCV002487852 SCV002791639 uncertain significance ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2022-04-20 criteria provided, single submitter clinical testing

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