ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu)

gnomAD frequency: 0.00001  dbSNP: rs371793829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071023 SCV002320816 uncertain significance Stickler syndrome type 2 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002552346 SCV002950292 uncertain significance not provided 2024-06-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 496 of the COL11A1 protein (p.Pro496Leu). 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 variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1527953). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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