ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2673del (p.Gly892fs)

dbSNP: rs749009747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002524406 SCV003481955 pathogenic not provided 2022-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438062). This variant is also known as c.3213delC (p.Gly1072AspfsTer17). This premature translational stop signal has been observed in individual(s) with COL18A1-related conditions (PMID: 32581362). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gly892Aspfs*17) in the COL18A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL18A1 are known to be pathogenic (PMID: 12415512, 25456301).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505075 SCV000598894 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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