ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)

dbSNP: rs786200896
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338549 SCV000331233 pathogenic not provided 2016-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806281 SCV000946270 pathogenic Qualitative or quantitative defects of dysferlin 2024-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1624Aspfs*10) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individuals with DYSF-related disorders (PMID: 9731527, 10825360, 18853459). It is commonly reported in individuals of Jewish ancestry (PMID: 9731527, 10825360, 18853459). This variant is also known as 1624delG. ClinVar contains an entry for this variant (Variation ID: 1300185). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000338549 SCV002021874 pathogenic not provided 2020-02-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466823 SCV004192250 pathogenic Miyoshi muscular dystrophy 1 2024-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025021 SCV005659328 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-01-06 criteria provided, single submitter clinical testing
OMIM RCV000007053 SCV000027249 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2006-12-01 no assertion criteria provided literature only

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