ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)

dbSNP: rs1557292678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594512 SCV000707500 pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814386 SCV000954794 pathogenic Duchenne muscular dystrophy 2020-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 19937601). ClinVar contains an entry for this variant (Variation ID: 501218). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1850Alafs*8) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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