ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys)

gnomAD frequency: 0.00001  dbSNP: rs142703906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705913 SCV000834933 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-11-15 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DAG1 protein function. ClinVar contains an entry for this variant (Variation ID: 581955). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (rs142703906, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 515 of the DAG1 protein (p.Glu515Lys).
Revvity Omics, Revvity RCV003144566 SCV003830414 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing

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