ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6614+2T>C

dbSNP: rs1060502641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473580 SCV000550297 pathogenic Duchenne muscular dystrophy 2019-07-04 criteria provided, single submitter clinical testing This variant has been observed in several individuals affected with Duchenne muscular dystrophy (PMID: 11524473, 19937601 ). ClinVar contains an entry for this variant (Variation ID: 409914). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 45 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507494 SCV000603353 pathogenic not specified 2016-12-07 criteria provided, single submitter clinical testing

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