ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[3] (p.2087_2090ILFI[3]) (rs749619435)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000295646 SCV000342217 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing
Invitae RCV000805748 SCV000945716 uncertain significance Dysferlinopathy 2018-12-04 criteria provided, single submitter clinical testing This variant, c.6154_6165dupATCCTCTTCATC, results in the insertion of 4 amino acid(s) to the DYSF protein (p.Ile2052_Ile2055dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770728402, ExAC 0.01%). This variant has been observed in an individual affected with limb-girdle muscular dystrophy, however a second variant was detected (PMID: 17994539). This variant is also known as c.6166+12InsATCC TCTTCATC in the literature. ClinVar contains an entry for this variant (Variation ID: 288182). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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