ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) (rs794727059)

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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 RCV000174301 SCV000225580 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV000821054 SCV000961795 uncertain significance Bethlem myopathy 1 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 319 of the COL6A1 protein (p.Lys319Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Bethlem myopathy in a family (PMID: 28831785). ClinVar contains an entry for this variant (Variation ID: 194039). 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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