ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=)

gnomAD frequency: 0.00012  dbSNP: rs185296216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001898439 SCV002159638 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects codon 416 of the COL18A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL18A1 protein. This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon. This variant is present in population databases (rs185296216, gnomAD 0.03%). 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: 1394102). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002553648 SCV003693202 uncertain significance Inborn genetic diseases 2021-09-13 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001898439 SCV004146722 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing COL18A1: BP4, BP7

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