ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.817G>A (p.Glu273Lys)

gnomAD frequency: 0.00002  dbSNP: rs374036753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899638 SCV002140240 uncertain significance not provided 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 273 of the COL9A1 protein (p.Glu273Lys). This variant is present in population databases (rs374036753, gnomAD 0.003%). 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.
Ambry Genetics RCV004040529 SCV004929775 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.817G>A (p.E273K) alteration is located in exon 8 (coding exon 8) of the COL9A1 gene. This alteration results from a G to A substitution at nucleotide position 817, causing the glutamic acid (E) at amino acid position 273 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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