Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV000991291 | SCV001135007 | pathogenic | Duchenne muscular dystrophy | 2019-12-24 | criteria provided, single submitter | clinical testing | The c.2530C>T variation can lead to premature truncation of the protein or may cause nonsense mediated decay. The variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in our in-house exome database. The variant was also not previously reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant as likely deleterious. As per ACMG guidelines the variant has been classified as pathogenic. |
Invitae | RCV000991291 | SCV002232012 | pathogenic | Duchenne muscular dystrophy | 2021-09-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 804333). This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 31081998). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln844*) 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). |