ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2003T>C (p.Val668Ala)

gnomAD frequency: 0.00001  dbSNP: rs1199161003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031311 SCV002313575 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 668 of the COL9A1 protein (p.Val668Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. 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 COL9A1 protein function. 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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