ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.706C>T (rs121912854)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415442 SCV000492869 pathogenic Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormality of dental enamel; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring 2015-05-07 criteria provided, single submitter clinical testing
Biomedical Innovation Departament, CIEMAT RCV001352750 SCV001547283 pathogenic Dystrophic epidermolysis bullosa 2014-04-01 criteria provided, single submitter research
Invitae RCV001384443 SCV001583941 pathogenic not provided 2017-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg236*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121912854, ExAC 0.003%). This variant has been reported in individuals affected with dystrophic epidermolysis bullosa inversa or classic severe recessive dystrophic epidermolysis bullosa (PMID: 8037207). However, in these individuals, a second variant was not identified. This variant is also known as p.Arg109*. ClinVar contains an entry for this variant (Variation ID: 17462). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478, 19681861). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019013 SCV000039300 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 1994-08-01 no assertion criteria provided literature only
OMIM RCV000019014 SCV000039301 pathogenic Recessive dystrophic epidermolysis bullosa 1994-08-01 no assertion criteria provided literature only

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