ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp)

dbSNP: rs2100925542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570447 SCV001794741 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821313 SCV005442591 uncertain significance Hearing loss, autosomal dominant 37 2024-12-25 criteria provided, single submitter research The COL11A1 c.4113G>C:p.(Glu1371Asp) is not found in gnomAD and possibly deleterious. It was detected in heterozygosity in an individual with sloping normal-to-severe HL.

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