ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile)

dbSNP: rs536428525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002021823 SCV002235310 benign not provided 2022-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538677 SCV004116975 uncertain significance COL11A1-related disorder 2022-12-22 criteria provided, single submitter clinical testing The COL11A1 c.1453C>A variant is predicted to result in the amino acid substitution p.Leu485Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103481259-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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