ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp)

gnomAD frequency: 0.00001  dbSNP: rs780211105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732510 SCV001982671 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001732510 SCV002201198 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980630 SCV005557907 uncertain significance Inborn genetic diseases 2024-07-10 criteria provided, single submitter clinical testing The c.496C>T (p.R166W) alteration is located in exon 4 (coding exon 4) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 496, causing the arginine (R) at amino acid position 166 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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