ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) (rs121912952)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217775 SCV000271599 uncertain significance not specified 2016-03-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Pro621Thr variant in COL11A2 has been reported in the homozygous state in one Iranian ind ividual with hearing loss and segregated with disease in 4 affected relatives wi thin the individual's consanguineous family (Chen 2005). This variant has also b een identified in 10/14172 South Asian chromosomes by the Exome Aggregation Cons ortium (ExAC,; dbSNP rs121912952). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that the p.Pro621Thr variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. However, there is limited data associating variants in the COL11A2 gene wit h autosomal recessive nonsyndromic hearing loss. Only three consanguineous famil ies with homozygous variants in COL11A2 have been described, including the famil y described above with the p.Pro621THr variant. In addition, there is limited da ta of the general populations from which these families are from (Iranian, Tunis ian, and Turkish; Chen 2005, Chakchouk 2015). In summary, although there is some suspicion for a pathogenic role, the clinical significance of this variant is u ncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584845 SCV000693209 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375391 SCV001571824 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Moderate, PM2_Moderate
GeneDx RCV000584845 SCV001783298 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing Reported in the homozygous state in five relatives from a consanguineous family with non-syndromic hearing loss (Chen et al., 2005); Reported in ClinVar (ClinVar Variant ID# 17129; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16033917)
OMIM RCV000018667 SCV000038950 pathogenic Deafness, autosomal recessive 53 2005-10-01 no assertion criteria provided literature only

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