ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)

gnomAD frequency: 0.00001  dbSNP: rs1286113919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003546693 SCV004274046 uncertain significance not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 573 of the COL7A1 protein (p.Val573Leu). This variant is present in population databases (no rsID available, 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: 990869). 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.
Natera, Inc. RCV001278979 SCV001466034 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-14 no assertion criteria provided clinical testing

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