Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188810 | SCV000242434 | pathogenic | not provided | 2016-03-22 | criteria provided, single submitter | clinical testing | c.434_435dupAG: p.Trp146SerfsX16 (W146SfsX16) in exon 4 of the SCARB2 gene (NM_005506.3). The normal sequence with the bases that are duplicated in braces is: ATAG{AG}TGGT.The c.434_435dupAG variant in the SCARB2 gene has been reported previously in association with action myoclonus-renal failure syndrome (AMRF) (Berkovic et al., 2008). The duplication causes a frameshift starting with codon Tryptophan 146, changes this amino acid to a Serine residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Trp146SerfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, c.434_435dupAG is considered a pathogenic variant. The variant is found in SCARB2, EPILEPSYV2-1 panel(s). |
Invitae | RCV001203979 | SCV001375164 | pathogenic | Progressive myoclonic epilepsy | 2019-06-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp146Serfs*16) in the SCARB2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs727502773, ExAC 0.01%). This variant has been observed in an individual affected with action myoclonus-renal failure syndrome (PMID: 18308289). It is also known as c.435_436insAG in the literature. ClinVar contains an entry for this variant (Variation ID: 7377). Loss-of-function variants in SCARB2 are known to be pathogenic (PMID: 19847901). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007802 | SCV000028003 | pathogenic | Epilepsy, progressive myoclonic 4, with or without renal failure | 2008-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000007802 | SCV000328630 | pathogenic | Epilepsy, progressive myoclonic 4, with or without renal failure | 2015-03-05 | no assertion criteria provided | literature only |