ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)

gnomAD frequency: 0.00001  dbSNP: rs1434362269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871549 SCV002194240 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 990827). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2315 of the COL7A1 protein (p.Pro2315Ala).
Natera, Inc. RCV001278931 SCV001465977 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-13 no assertion criteria provided clinical testing

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