ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)

gnomAD frequency: 0.00019  dbSNP: rs149342284
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486069 SCV002782275 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2022-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542943 SCV003271446 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1663 of the COL7A1 protein (p.Pro1663Thr). This variant is present in population databases (rs149342284, gnomAD 0.04%). 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: 991830). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987823 SCV004804386 uncertain significance not specified 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002542943 SCV005189471 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005360013 SCV005916738 uncertain significance Recessive dystrophic epidermolysis bullosa 2022-02-18 criteria provided, single submitter research
Natera, Inc. RCV001280108 SCV001467261 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-07-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751951 SCV005355469 uncertain significance COL7A1-related disorder 2024-04-13 no assertion criteria provided clinical testing The COL7A1 c.4987C>A variant is predicted to result in the amino acid substitution p.Pro1663Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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