ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) (rs373072443)

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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 RCV000357521 SCV000341892 uncertain significance not provided 2016-05-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778643 SCV000914975 likely pathogenic Collagen VI-related myopathy 2017-05-09 criteria provided, single submitter clinical testing The COL6A2 c.2488C>T (p.Arg830Trp) missense variant has been reported in two studies and is found in a compound heterozygous state in a total of three individuals, including two siblings with recessive Bethlem myopathy and an unrelated individual with a recessive limb-girdle muscular dystrophy phenotype (Foley et al. 2009; Mitsui et al. 2016). The variant was also identified in a heterozygous state in the unaffected father of the siblings. Control data are unavailable for this variant, which is reported at a frequency of 0.00004 in the Total population of the Exome Aggregation Consortium. Foley et al. (2009) performed collagen VI staining using dermal fibroblasts from one of the siblings and found that collagen VI was deposited but differed in appearance and amount compared to collagen VI deposited by normal fibroblasts. Based on the evidence, the p.Arg830Trp variant is classified as likely pathogenic for recessive collagen type VI-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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