ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])

dbSNP: rs764710670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517782 SCV000612867 uncertain significance not specified 2016-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001486164 SCV001690617 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000517782 SCV005204387 likely benign not specified 2024-06-12 criteria provided, single submitter clinical testing Variant summary: COL18A1 c.1800_1808delTGGGCCCCC (p.Pro603_Pro605del) results in an in-frame deletion in a repetitive region removing 3 amino acids (i.e. one Pro-Gly-Pro unit) from four consecutive PGP repeats. The variant allele was found at a frequency of 0.00053 in 1,486,532 control chromosomes in the gnomAD database (v4.1 dataset) including 5 homozygotes, and was predominantly reported within the East Asian subpopulation at a frequency of 0.0068. In addition, the variant was reported with similarly high allele frequency (0.0055) in Chinese control individuals (ChinaMAP database [PMID: 32355288]; zygosity is not specified in this dataset). To our knowledge, no occurrence of c.1800_1808delTGGGCCCCC in individuals affected with Knobloch Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 447115). Based on the evidence outlined above, the variant was classified as likely benign.

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