ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)

gnomAD frequency: 0.00026  dbSNP: rs139480042
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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 RCV001492642 SCV001697259 likely benign not provided 2024-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001492642 SCV001768678 uncertain significance not provided 2025-03-04 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD) (PMID: 25240749); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Ambry Genetics RCV004037322 SCV004929386 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.1169A>G (p.E390G) alteration is located in exon 8 (coding exon 8) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 1169, causing the glutamic acid (E) at amino acid position 390 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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