ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)

gnomAD frequency: 0.00004  dbSNP: rs150982987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521843 SCV000620531 uncertain significance not provided 2019-03-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID 451783; Landrum et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25633957)
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678343 SCV000804407 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. This variant is present in gnomAD, occurring at 0.0097% in European non-Finnish. Computational models predict that this variant is probably damaging. The inheritance of the p.L196P variant is unknown. A second maternally-inherited VUS was also identified in COLL11A2.
Invitae RCV000521843 SCV002362380 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960237 SCV004771701 uncertain significance COL11A2-related condition 2023-10-18 criteria provided, single submitter clinical testing The COL11A2 c.587T>C variant is predicted to result in the amino acid substitution p.Leu196Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-33156158-A-G). 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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