ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1509+7_1509+21del (rs781662866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781314 SCV000919241 uncertain significance not specified 2018-12-11 criteria provided, single submitter clinical testing Variant summary: COL3A1 c.1509+7_1509+21del15 is a 15 nucleotides deletion located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 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 3.3e-05 in 246092 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1509+7_1509+21del15 in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000634737 SCV000756080 likely benign Ehlers-Danlos syndrome, type 4 2017-10-22 criteria provided, single submitter clinical testing

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