ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.115+2T>C (rs770842374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554332 SCV000657096 pathogenic Bethlem myopathy 1 2019-09-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the COL6A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in COL6A2 are known to be pathogenic. This particular variant has been reported in the literature in 2 individuals affected with autosomal recessive collagen VI myopathy (PMID: 20976770). For these reasons, this variant has been classified as Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000779359 SCV000915959 likely pathogenic Collagen VI-related myopathy 2019-01-13 criteria provided, single submitter clinical testing The COL6A2 c.115+2T>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. This variant has been reported in two studies and is found in four affected individuals, including a sibling pair, one in a homozygous state and three in a compound heterozygous state. All individuals had collagen type VI spectrum disorders, two of whom were classified as moderate progressive (Brinas et al. 2010; Fraser et al. 2017). This variant is found at a frequency of 0.000294 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the evidence, the c.115+2T>C variant is classified as likely pathogenic for recessively inherited 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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