ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)

gnomAD frequency: 0.00001  dbSNP: rs765321512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002874972 SCV003637149 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.4015G>C (p.E1339Q) alteration is located in exon 34 (coding exon 34) of the COL7A1 gene. This alteration results from a G to C substitution at nucleotide position 4015, causing the glutamic acid (E) at amino acid position 1339 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479491 SCV004222898 uncertain significance not specified 2023-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005059344 SCV005719080 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1339 of the COL7A1 protein (p.Glu1339Gln). This variant is present in population databases (rs765321512, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2308339). 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 COL7A1 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.

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