ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)

gnomAD frequency: 0.00148  dbSNP: rs200484625
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333463 SCV001526043 uncertain significance Knobloch syndrome 2018-02-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001452439 SCV001656103 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001452439 SCV002525416 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548178 SCV004725388 likely benign COL18A1-related disorder 2022-06-28 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).
Neuberg Centre For Genomic Medicine, NCGM RCV004546636 SCV005042762 uncertain significance Knobloch syndrome 1 criteria provided, single submitter clinical testing The missense c.3539G>A p.Arg1180Gln variant in COL18A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1180Gln variant is reported with allele frequency of 0.1% in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Benign / Uncertain Significance. The amino acid change p.Arg1180Gln in COL18A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1180 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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