ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1848_1850delCCT (rs1085307560)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729726 SCV000576722 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing The c.1848_1850delCCT variant in the COL6A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1848_1850delCCT variant causes an in-frame deletion of codon Leucine 617, denoted p.Leu617del. This deletion occurs at a residue that is conserved through mammals. The c.1848_1850delCCT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1848_1850delCCT as a variant of uncertain significance.
Invitae RCV000653551 SCV000775432 uncertain significance Bethlem myopathy 1 2017-12-06 criteria provided, single submitter clinical testing This variant, c.1848_1850delCCT, results in the deletion of 1 amino acid(s) of the COL6A1 protein (p.Leu617del), 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 COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 426313). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729726 SCV000857412 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing

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