ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)

gnomAD frequency: 0.00003  dbSNP: rs376234802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183414 SCV000235873 likely benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Invitae RCV000527743 SCV000625918 uncertain significance Duchenne muscular dystrophy 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1744 of the DMD protein (p.Asn1744Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 201750). 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 DMD protein function with a negative predictive value of 95%. 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 RCV000183414 SCV003829450 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing

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