ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)

gnomAD frequency: 0.00133  dbSNP: rs61735035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451600 SCV001655235 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388017 SCV004100021 uncertain significance not specified 2023-09-20 criteria provided, single submitter clinical testing Variant summary: COL18A1 c.3920C>T (p.Ser1307Leu) results in a non-conservative amino acid change located in the collagenase non-helical region 10/endostatin domain (IPR010515) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0003 in 243722 control chromosomes, predominantly at a frequency of 0.0047 within the African or African-American subpopulation in the gnomAD database, suggesting the variant could be a benign polymorphism found primarily in individuals of African/African American ancestry. To our knowledge, no occurrence of c.3920C>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 a clinical-significance assessment 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 VUS-possibly benign.

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