ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) (rs143206624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000680456 SCV000807829 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000439022 SCV000535197 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing The T1601N variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1601N variant is observed in 9/30,780 (0.0292%) alleles from individuals of South Asian background and in 55/276,926 (0.0199%) global alleles in large population cohorts (Lek et al., 2016). The T1601N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret T1601N as a variant of uncertain significance

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