ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3])

dbSNP: rs749619435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295646 SCV000342217 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805748 SCV000945716 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-13 criteria provided, single submitter clinical testing This variant, c.6154_6165dup, results in the insertion of 4 amino acid(s) of the DYSF protein (p.Ile2052_Ile2055dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770728402, gnomAD 0.01%). This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 17994539). ClinVar contains an entry for this variant (Variation ID: 288182). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000295646 SCV005079460 likely pathogenic not provided 2023-12-08 criteria provided, single submitter clinical testing Identified in patients with limb-girdle muscluar dystrophy phenotypes without a second DYSF allele defined in the published literature (PMID: 17994539, 34559919); In-frame duplication of 4 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24438169, 34559919, 17994539)
Natera, Inc. RCV001828249 SCV002080361 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-18 no assertion criteria provided clinical testing

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