ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1352G>A (p.Gly451Asp)

dbSNP: rs1771811070
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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 RCV001322703 SCV001513589 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 451 of the COL9A1 protein (p.Gly451Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022755). 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 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 RCV004035078 SCV004929767 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1352G>A (p.G451D) alteration is located in exon 19 (coding exon 19) of the COL9A1 gene. This alteration results from a G to A substitution at nucleotide position 1352, causing the glycine (G) at amino acid position 451 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001322703 SCV005437468 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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