ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)

dbSNP: rs1553415622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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

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