ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2276A>T (p.Asp759Val)

gnomAD frequency: 0.00002  dbSNP: rs752385858
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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 RCV001902320 SCV002134521 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 759 of the COL9A1 protein (p.Asp759Val). This variant is present in population databases (rs752385858, gnomAD 0.02%). 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: 1363541). 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 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.
Ambry Genetics RCV003346728 SCV004052266 uncertain significance Inborn genetic diseases 2023-08-19 criteria provided, single submitter clinical testing The c.2276A>T (p.D759V) alteration is located in exon 35 (coding exon 35) of the COL9A1 gene. This alteration results from a A to T substitution at nucleotide position 2276, causing the aspartic acid (D) at amino acid position 759 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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