ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)

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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 RCV003064792 SCV003452072 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV003064792 SCV003919536 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL11A2 gene, where other pathogenic missense variants associated with autosomal dominant hearing loss have occurred (HGMD)
Ambry Genetics RCV003250724 SCV003939377 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.2647G>A (p.G883S) alteration is located in exon 36 (coding exon 36) of the COL11A2 gene. This alteration results from a G to A substitution at nucleotide position 2647, causing the glycine (G) at amino acid position 883 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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