ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs)

dbSNP: rs1554225999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498179 SCV000590729 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The c.339_340delCCinsG variant in the COL11A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.339_340delCCinsG variant causes a frameshift starting with codon Leucine 114, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Leu114TrpfsX31. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.339_340delCCinsG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.339_340delCCinsG as a pathogenic variant.

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