ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1040G>C (p.Gly347Ala)

dbSNP: rs764474418
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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 RCV002022336 SCV002270344 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 347 of the COL9A1 protein (p.Gly347Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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