ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.634C>A (p.His212Asn)

gnomAD frequency: 0.00003  dbSNP: rs146574353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403851 SCV000333357 uncertain significance not provided 2015-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817809 SCV000958392 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 212 of the DAG1 protein (p.His212Asn). This variant is present in population databases (rs146574353, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 282130). 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 DAG1 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 RCV002519105 SCV003596506 uncertain significance Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing The c.634C>A (p.H212N) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a C to A substitution at nucleotide position 634, causing the histidine (H) at amino acid position 212 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000403851 SCV003834227 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000403851 SCV005079491 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623, 21388311)

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