ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)

gnomAD frequency: 0.00002  dbSNP: rs138667578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825901 SCV000967386 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The p.Gln1707His variant in COL11A2 has not been previously reported in individu als with hearing loss, Stickler syndrome, or OSMED syndrome, but has been identi fied in 0.05% (18/34468) of Latino chromosomes by gnomAD (http://gnomad.broadins titute.org). Computational prediction tools and conservation analysis suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln1707His variant is uncertain. ACMG/AMP Criteria applied: BP4.
GeneDx RCV001816913 SCV002064179 uncertain significance not provided 2024-12-09 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001816913 SCV002116783 benign not provided 2024-04-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001816913 SCV004563639 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing The COL11A2 c.5121G>T; p.Gln1707His variant (rs138667578), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 667219). This variant is observed in the general population with an overall allele frequency of 0.007% (18/244562 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.361). Due to limited information, the clinical significance of this variant is uncertain at this time.

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