ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs138626345
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Total submissions: 4
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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
Invitae RCV001169968 SCV001546852 uncertain significance not provided 2022-09-16 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). 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) has been performed at Invitae 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 Omics RCV001169968 SCV003828282 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
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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