Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593308 | SCV000706721 | uncertain significance | not provided | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Jain Foundation | RCV003231652 | SCV003927997 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-03-13 | criteria provided, single submitter | research | This varaint has been found in the heterozygous state in conjunction with another pathogenic DYSF variant, c.1639-6T>A, in 2 different individuals (PMID:36983702, 30564623). It has also been identified in one family with dysferlinopathy, segregating with the disease in 2 affected siblings, and was associated with absent dysferlin protein expression (PMID: 36983702). RNASeq analysis showed that the c.5503G>A variant activates a cryptic splice site at is own variant position in exon 49 that results in the deletion of 23 bps from exon 49 and causes a frameshift (p.Met1835LeufsX6; PMID: 36983702). The ACMG classification criteria are: PM2 moderate, PM3 moderate, PP1 supporting, PP4 moderate, and PS3 strong. Based on the above data, this variant has been classified as Pathogenic |