ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.1141_1142dup (p.Ser382Alafs) (rs1554405928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627658 SCV000748658 likely pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing The c.1141_1142dupGG variant in the AGK gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1141_1142dupGG variant causes a frameshift starting with codon Serine 382, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Ser382AlafsX17. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1141_1142dupGG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1141_1142dupGG as a likely pathogenic variant.
Invitae RCV000696618 SCV000825184 uncertain significance Sengers syndrome; Cataract, autosomal recessive congenital 5 2018-06-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the AGK gene (p.Ser382Alafs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acids of the AGK protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Sengers syndrome (Invitae). Other truncations (p.Tyr390* and p.Gln405*) that lie downstream of this variant have been reported in individuals affected with Sengers syndrome (PMID: 22277967, 22284826). 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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