ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) (rs1446214240)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731608 SCV000859452 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000731608 SCV000710095 likely pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The c.1668_1669insGTT variant in the DYSF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1668_1669insGTT variant is not observed in large population cohorts (Lek et al., 2016). The c.1668_1669insGTT variant results in an in-frame insertion of a single Valine residue at codon 557, denoted p.Leu556_Leu557insVal. We interpret c.1668_1669insGTT as a likely pathogenic variant.
Invitae RCV000822847 SCV000963666 uncertain significance Dysferlinopathy 2018-11-01 criteria provided, single submitter clinical testing This variant, c.1668_1669insGTT, results in the insertion of 1 amino acid(s) to the DYSF protein (p.Leu556_Leu557insVal), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 503800). 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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