ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1829C>T (p.Ala610Val)

gnomAD frequency: 0.00018  dbSNP: rs537920451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805469 SCV000945426 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 610 of the DAG1 protein (p.Ala610Val). This variant is present in population databases (rs537920451, gnomAD 0.05%). 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: 650337). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity Omics RCV003144626 SCV003830419 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166246 SCV003887033 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.1829C>T (p.A610V) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a C to T substitution at nucleotide position 1829, causing the alanine (A) at amino acid position 610 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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