ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys)

gnomAD frequency: 0.00002  dbSNP: rs754794110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502948 SCV000596518 uncertain significance not specified 2016-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039578 SCV001203110 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-08-04 criteria provided, single submitter clinical testing 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. 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 POMGNT2 protein function. ClinVar contains an entry for this variant (Variation ID: 436366). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. This variant is present in population databases (rs754794110, gnomAD 0.07%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 399 of the POMGNT2 protein (p.Glu399Lys).

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