ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3417C>T (p.His1139=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003014179 SCV003317181 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1136 of the COL18A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL18A1 protein.
PreventionGenetics, part of Exact Sciences RCV004550348 SCV004721061 likely benign COL18A1-related disorder 2023-03-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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