ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)

gnomAD frequency: 0.00001  dbSNP: rs1268538634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790429 SCV000929756 uncertain significance Autosomal dominant nonsyndromic hearing loss 13 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV002536922 SCV002983407 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 33 of the COL11A2 protein (p.Asp33Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 637964). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL11A2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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