ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.445A>G (p.Ile149Val)

gnomAD frequency: 0.00009  dbSNP: rs113986866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562569 SCV001785353 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002570737 SCV003243001 uncertain significance Sengers syndrome; Cataract 38 2022-09-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 149 of the AGK protein (p.Ile149Val). This variant is present in population databases (rs113986866, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AGK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1198422). 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 not expected to disrupt AGK 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.
Ambry Genetics RCV003298931 SCV003999749 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.445A>G (p.I149V) alteration is located in exon 8 (coding exon 7) of the AGK gene. This alteration results from a A to G substitution at nucleotide position 445, causing the isoleucine (I) at amino acid position 149 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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