ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)

gnomAD frequency: 0.00007  dbSNP: rs372387693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401941 SCV001603779 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001401941 SCV001773306 uncertain significance not provided 2024-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; PMID: 25240749); This variant is associated with the following publications: (PMID: 25240749)
PreventionGenetics, part of Exact Sciences RCV004531224 SCV004118401 uncertain significance COL11A1-related disorder 2022-11-21 criteria provided, single submitter clinical testing The COL11A1 c.1138G>A variant is predicted to result in the amino acid substitution p.Glu380Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103488405-C-T). Although we suspect that this variant may be benign, 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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