ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)

dbSNP: rs398124034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000490180 SCV000112641 pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000490180 SCV000577354 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing Published functional studies demonstrate decreased dystrophin on Western blot (Aartsma-Rus et al., 2006); In-frame deletion of 1 amino acids in a non-repeat region predicted to critically alter the protein length. Deleted amino acid residue is predicted to be within the CH domain 2 in the actin binding domain; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21515508, 19937601, 27582364, 20485447, 33101180, 33644936, 29973226, 19760747)
Labcorp Genetics (formerly Invitae), Labcorp RCV003512015 SCV004298938 pathogenic Duchenne muscular dystrophy 2024-11-21 criteria provided, single submitter clinical testing This variant, c.676_678del, results in the deletion of 1 amino acid(s) of the DMD protein (p.Lys226del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Becker/Duchenne muscular dystrophy (PMID: 19760747, 20485447, 21515508, 27582364). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 94746). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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