ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2738_2740del (p.Ser913del) (rs777696289)

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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 RCV000285662 SCV000343963 uncertain significance not provided 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV000653517 SCV000775398 uncertain significance Bethlem myopathy 1 2017-12-27 criteria provided, single submitter clinical testing This variant, c.2738_2740delCCT, results in the deletion of 1 amino acid(s) of the COL6A2 protein (p.Ser913del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777696289, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 289580). 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.

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