ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)

gnomAD frequency: 0.00001  dbSNP: rs121912951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496405 SCV002811490 pathogenic Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2022-05-03 criteria provided, single submitter clinical testing
Invitae RCV002513107 SCV003513812 pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1331*) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229). This variant is present in population databases (rs121912951, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with otospondylomegaepiphyseal dysplasia (PMID: 10677296). ClinVar contains an entry for this variant (Variation ID: 17128). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018666 SCV000038949 pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive 2005-01-01 no assertion criteria provided literature only

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