ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)

gnomAD frequency: 0.00002  dbSNP: rs368597067
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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 RCV000503519 SCV000594310 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648787 SCV000770608 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-03-30 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: 434895). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (rs368597067, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 811 of the DAG1 protein (p.Pro811Ser).
Revvity Omics, Revvity RCV003144295 SCV003834246 uncertain significance not provided 2021-06-17 criteria provided, single submitter clinical testing

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