ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.738+14C>T

gnomAD frequency: 0.00046  dbSNP: rs374896651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079823 SCV000111706 uncertain significance not provided 2012-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055141 SCV002423861 likely benign Bethlem myopathy 1A 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235035 SCV003934800 benign not specified 2023-05-05 criteria provided, single submitter clinical testing Variant summary: COL6A1 c.738+14C>T alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00029 in 218868 control chromosomes. The observed variant frequency is approximately 600 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL6A1 causing Collagen Type VI-Related Disorders phenotype (4.8e-07), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.738+14C>T in individuals affected with Collagen Type VI-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.

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