ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.651+17C>T

gnomAD frequency: 0.00007  dbSNP: rs578202936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002082354 SCV002440330 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323989 SCV004029305 uncertain significance not specified 2023-07-14 criteria provided, single submitter clinical testing Variant summary: COL18A1 c.651+17C>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 7.5e-05 in 187568 control chromosomes. To our knowledge, no occurrence of c.651+17C>T in individuals affected with Knobloch Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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