ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1675-3C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002998944 SCV003293079 uncertain significance not provided 2022-06-19 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 present in population databases (rs771060622, gnomAD 0.003%). This sequence change falls in intron 14 of the COL18A1 gene. It does not directly change the encoded amino acid sequence of the COL18A1 protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV004550337 SCV004733013 likely benign COL18A1-related disorder 2020-06-25 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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