ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=)

gnomAD frequency: 0.00009  dbSNP: rs199910738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762043 SCV000892288 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000762043 SCV002316244 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change affects codon 738 of the COL18A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL18A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199910738, 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: 623971). 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.
PreventionGenetics, part of Exact Sciences RCV004740445 SCV005350780 likely benign COL18A1-related disorder 2024-09-25 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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