ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)

gnomAD frequency: 0.00001  dbSNP: rs778311240
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659321 SCV000781132 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001731852 SCV001982220 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 547209; ClinVar)
Invitae RCV001731852 SCV002130263 benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243245 SCV003965691 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.3698A>G (p.N1233S) alteration is located in exon 48 (coding exon 48) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 3698, causing the asparagine (N) at amino acid position 1233 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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