ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7174G>A (p.Gly2392Arg) (rs773673162)

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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 RCV000329071 SCV000338511 uncertain significance not provided 2015-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000329071 SCV001153363 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001054907 SCV001219265 uncertain significance Bethlem myopathy 1 2019-12-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2392 of the COL6A3 protein (p.Gly2392Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs773673162, ExAC 0.03%). This variant has been observed in combination with another COL6A3 variant in an individual affected with myopathy (PMID: 28097933). ClinVar contains an entry for this variant (Variation ID: 285480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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