ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) (rs373108028)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research,Children's National Medical Center RCV000233428 SCV000265815 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000327869 SCV000428726 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000686686 SCV000814214 uncertain significance Bethlem myopathy 1 2018-05-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2723 of the COL6A3 protein (p.Ile2723Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs373108028, ExAC 0.2%). This variant has been observed in an individual affected with congenital muscular dystrophy (PMID: 27854218). ClinVar contains an entry for this variant (Variation ID: 224696). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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