ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8966-1G>C (rs767517186)

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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 RCV000592070 SCV000708275 pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000688238 SCV000815841 pathogenic Bethlem myopathy 1 2018-04-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 40 of the COL6A3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs767517186, ExAC 0.003%). This variant has been reported in combination with another COL6A3 variant in individuals affected with isolated dystonia (PMID: 26004199). ClinVar contains an entry for this variant (Variation ID: 192263). Experimental studies have shown that this splice acceptor change results in aberrant splicing of the COl6A3 primary mRMA (PMID: 26004199). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547) and loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 26004199). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000172851 SCV000223820 pathogenic Dystonia 27 2015-06-04 no assertion criteria provided literature only

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