ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)

gnomAD frequency: 0.00004  dbSNP: rs368086400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503712 SCV000593105 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865594 SCV002128225 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 374 of the ALG6 protein (p.Thr374Ala). This variant is present in population databases (rs368086400, gnomAD 0.03%). 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: 434127). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002524147 SCV003720055 uncertain significance Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing The c.1120A>G (p.T374A) alteration is located in exon 13 (coding exon 12) of the ALG6 gene. This alteration results from a A to G substitution at nucleotide position 1120, causing the threonine (T) at amino acid position 374 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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