Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154600 | SCV000204273 | likely pathogenic | Primary dilated cardiomyopathy; Neuromuscular disease | 2010-11-03 | criteria provided, single submitter | clinical testing | The Ser12Phe variant has been reported in one Chinese individual with desminopat hy as well as 3 affected family members. The variant was absent from 200 race ma tched control chromosomes and caused abnormal desmin fiber aggregates in the cyt oplasm, supporting a pathogenic role (Hong 2010). In addition, serine (Ser) at position 12 is conserved across evolutionary distant species, further increasing the likelihood that the change is pathogenic. Finally, this individual has cli nical features consistent with a variant in desmin. In summary, it is highly li kely that this variant pathogenic. |
Eurofins Ntd Llc |
RCV000056800 | SCV000701314 | likely pathogenic | not provided | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001061421 | SCV001226164 | pathogenic | Desmin-related myofibrillar myopathy | 2021-02-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect DES protein function (PMID: 20696008). This variant has been observed to segregate with desminopathy in an affected family (PMID: 20696008) and has been observed to be de novo in an individual with clinical features consistent with DES-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 66412). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 12 of the DES protein (p.Ser12Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. |
Revvity Omics, |
RCV000056800 | SCV002020332 | pathogenic | not provided | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056800 | SCV000087913 | not provided | not provided | no assertion provided | not provided |