ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met)

gnomAD frequency: 0.00002  dbSNP: rs544289862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328014 SCV001519347 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM1, PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
GeneDx RCV001547959 SCV001767791 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing Identified in one individual with hearing loss in published literature (Adeyemo et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34837038)
Invitae RCV001547959 SCV002275415 benign not provided 2023-06-17 criteria provided, single submitter clinical testing

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