ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)

gnomAD frequency: 0.00003  dbSNP: rs757608461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870583 SCV002129711 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001870583 SCV002599626 uncertain significance not provided 2022-05-06 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 in association with a COL11A1-related disorder to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014; HGMD); This variant is associated with the following publications: (PMID: 25240749, 25268133)
Ambry Genetics RCV002551059 SCV003558901 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.5119C>T (p.R1707W) alteration is located in exon 66 (coding exon 66) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 5119, causing the arginine (R) at amino acid position 1707 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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