ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu)

dbSNP: rs2153501474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012580 SCV002281090 uncertain significance Ehlers-Danlos syndrome, type 4 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 127 of the COL3A1 protein (p.Gly127Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of COL3A1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1493186). 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 COL3A1 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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