ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)

gnomAD frequency: 0.00001  dbSNP: rs727504543
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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 RCV000155698 SCV000205408 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing The Glu1499Lys variant in COL11A2 has not been reported in individuals with hear ing loss or in large population studies. Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
GeneDx RCV000766448 SCV000573705 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV000766448 SCV004618543 benign not provided 2023-04-23 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845018 SCV000986851 not provided COL11A2- Related Disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02/28/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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