ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.6839G>A (p.Ser2280Asn) (rs1060502614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467397 SCV000550253 uncertain significance Duchenne muscular dystrophy 2016-10-08 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2280 of the DMD protein (p.Ser2280Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DMD-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764877 SCV000896033 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing

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