ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu)

gnomAD frequency: 0.00023  dbSNP: rs139566877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272156 SCV000445058 uncertain significance Epidermolysis bullosa dystrophica 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001351491 SCV001545969 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2747 of the COL7A1 protein (p.Pro2747Leu). This variant is present in population databases (rs139566877, gnomAD 0.03%). 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: 345796). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL7A1 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.
Ambry Genetics RCV004021920 SCV004930056 uncertain significance Inborn genetic diseases 2024-08-10 criteria provided, single submitter clinical testing The c.8240C>T (p.P2747L) alteration is located in exon 111 (coding exon 111) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 8240, causing the proline (P) at amino acid position 2747 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000272156 SCV002079186 uncertain significance Epidermolysis bullosa dystrophica 2020-05-06 no assertion criteria provided clinical testing

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