ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) (rs1343199316)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658261 SCV000780032 likely pathogenic not provided 2018-05-30 criteria provided, single submitter clinical testing Although the c.1190dupC likely pathogenic variant in the COL11A1 gene has not been reported to our knowledge, this variant results in the duplication of one nucleotide which creates a premature stop codon at position asparagine 398. It is predicted result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. The c.1190dupC variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016). Loss of function (nonsense and frameshift) variants in the COL11A1 gene have been reported in association with autosomal dominant Stickler or Marshall syndromes (Acke et al., 2014); however, most variants reported to date in the COL11A1 gene in association with these disorders are missense or splice site variants (Stenson et al., 2014). Loss of function variants in the COL11A1 gene have also been reported in autosomal recessive fibrochondrogenesis, when homozygous or present in a compound heterozygous state with a second protein-altering variant (Tompson et al., 2010; Akawi et al., 2012; Richards et al., 2013). In several families, the parent heterozygous for the loss of function variant manifested milder features, such as hearing loss, not sufficient to establish a clinical diagnosis of Stickler syndrome (Tompson et al., 2010; Richards et al., 2013). In summary, c.1190dupC in the COL11A1 gene is interpreted as a likely pathogenic variant.

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