ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)

dbSNP: rs1603631752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990653 SCV001141672 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001263946 SCV001442044 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2019-03-01 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000990653 SCV002767313 pathogenic Duchenne muscular dystrophy 2021-05-06 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Becker muscular dystrophy (MIM#300376), Duchenne muscular dystrophy (MIM#310200) and dilated cardiomyopathy 3B (DCM) (MIM#302045). (I) 0109 - This gene is associated with X-linked recessive disease. This gene is primarily associated with X-linked recessive disease relating to the muscular dystrophy phenotypes, however it is also associated with X-linked dominant DCM (OMIM, PMID: 26066469). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0253 - This variant is hemizygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Many other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Other NMD predicted variants have been reported as pathogenic in individuals with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) (PMID: 33420945). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported in multiple individuals with BMD and one individual with DMD (ClinVar, PMID: 17041906, 19959795, 27582364, 32813700, 33420945). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Invitae RCV000990653 SCV003323385 pathogenic Duchenne muscular dystrophy 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1660*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Becker muscular dystrophy (PMID: 27582364, 33420945). ClinVar contains an entry for this variant (Variation ID: 803866). For these reasons, this variant has been classified as Pathogenic.

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