ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)

dbSNP: rs145693444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175121 SCV000226553 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV002228783 SCV000752619 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 294 of the COL1A2 protein (p.Val294Ile). This variant is present in population databases (rs145693444, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 194693). 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 COL1A2 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.
GeneDx RCV000175121 SCV001813155 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277350 SCV002565595 uncertain significance Ehlers-Danlos syndrome 2019-09-01 criteria provided, single submitter clinical testing

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