ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)

gnomAD frequency: 0.00005  dbSNP: rs138626345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169968 SCV001251682 likely pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001169968 SCV001546852 uncertain significance not provided 2024-09-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2158 of the COL7A1 protein (p.Arg2158His). This variant is present in population databases (rs138626345, gnomAD 0.02%). 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: 915364). 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.
Revvity Omics, Revvity RCV001169968 SCV003828282 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032917 SCV004930047 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.6473G>A (p.R2158H) alteration is located in exon 79 (coding exon 79) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 6473, causing the arginine (R) at amino acid position 2158 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279702 SCV001466821 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-08 no assertion criteria provided clinical testing

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