ClinVar Miner

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

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Total submissions: 3
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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 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2158 of the COL7A1 protein (p.Arg2158His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs138626345, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL7A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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. RCV001279702 SCV001466821 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-08 no assertion criteria provided clinical testing

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