ClinVar Miner

Submissions for variant NM_001927.4(DES):c.35C>T (p.Ser12Phe)

dbSNP: rs267607495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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 (ga) 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, Revvity RCV000056800 SCV002020332 pathogenic not provided 2022-05-05 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056800 SCV000087913 not provided not provided no assertion provided not provided

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