ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003422450 SCV004118598 uncertain significance COL1A2-related disorder 2023-04-20 criteria provided, single submitter clinical testing The COL1A2 c.3463T>A variant is predicted to result in the amino acid substitution p.Ser1155Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-94057134-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003778324 SCV004597010 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1155 of the COL1A2 protein (p.Ser1155Thr). This variant is present in population databases (rs577182625, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with COL1A2-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 COL1A2 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.

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