ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)

gnomAD frequency: 0.00012  dbSNP: rs139116571
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724260 SCV000232326 uncertain significance not provided 2014-10-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223442 SCV000271609 uncertain significance not specified 2015-06-22 criteria provided, single submitter clinical testing The p.Gly297Ser variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 1/6758 European American chromo somes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs139116571). Computational prediction tools and conservation analyses su ggest that the p.Gly297Ser variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. In summary, the clini cal significance of the p.Gly297Ser variant is uncertain.
GeneDx RCV000724260 SCV000491063 uncertain significance not provided 2023-09-27 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 does not alter protein structure/function
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678342 SCV000804406 uncertain significance Otospondylomegaepiphyseal dysplasia, autosomal dominant 2017-10-03 criteria provided, single submitter provider interpretation This 9 year old female has severe intellectual disability, growth and feeding problems requiring a G-tube as an infant, a repaired cleft palate, short stature (4 SD below average), microcephaly, scoliosis, deviated septum, widely set nipples, curved 4th and 5th digits bilaterally, recurrent nosebleeds, and possible hearing loss. Dysmorphic facial features include midface depression, prominent forehead, low set and posteriorly rotated ears, and micrognathia. Benign pulmonary artery branch stenosis and a small PFO were noted on echocardiogram, and an abnormal brain MRI done at 8 years of age showed scattered, non-enhancing, non-specific punctate predominately subcortical T2 hyperintensities with mild-moderate cerebral volume loss. Her bone age at 8 years, 1 month was essentially normal (0.3 SD below mean). Tympanograms were done at 7 years of age and were within normal limits bilaterally with OAEs at fail/refer results bilaterally. The p.G297S variant was maternally inherited and is present in gnomAD, occurring 0.01% in the Latino population and 0.02% in European non-Finnish. Computational model predictions are inconsistent. A second VUS was also identified in COLL11A2, inheritance is unknown.
Fulgent Genetics, Fulgent Genetics RCV000764647 SCV000895756 uncertain significance Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253705 SCV001429554 uncertain significance Autosomal dominant nonsyndromic hearing loss 13 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000724260 SCV001571174 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277425 SCV002567104 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing

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