ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser)

gnomAD frequency: 0.00002  dbSNP: rs375314757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581310 SCV001812029 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001581310 SCV003781327 benign not provided 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346626 SCV004066860 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.2039A>G (p.N680S) alteration is located in exon 22 (coding exon 22) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 2039, causing the asparagine (N) at amino acid position 680 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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