ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1912_1914del (p.Val638del) (rs1568939674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822058 SCV000962842 uncertain significance Bethlem myopathy 1 2018-10-22 criteria provided, single submitter clinical testing This variant, c.1912_1914delGTC, results in the deletion of 1 amino acid(s) of the COL6A2 protein (p.Val638del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed as heterozygous in an individual affected with Type VI collagenopathy (PMID: 24271325). 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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