ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12210C>G

gnomAD frequency: 0.00068  dbSNP: rs201773944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799415 SCV001432895 uncertain significance Knobloch syndrome 1 2021-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001256108 SCV001542340 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing The COL18A1 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_030582.4, and corresponds to NM_130445.3:c.107-12210C>G in the primary transcript. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 168 of the COL18A1 protein (p.Leu168Val). This variant is present in population databases (rs201773944, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 978155). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
GeneDx RCV001256108 SCV005332359 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548109 SCV004780283 likely benign COL18A1-related disorder 2022-08-26 no assertion criteria provided 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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