ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.340del (p.Ser114fs)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002664941 SCV003535727 pathogenic Inborn genetic diseases 2022-03-24 criteria provided, single submitter clinical testing The c.340delA (p.S114Vfs*60) alteration, located in exon 6 (coding exon 5) of the COL17A1 gene, consists of a deletion of one nucleotide at position 340, causing a translational frameshift with a predicted alternate stop codon after 60 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, this alteration has an overall frequency of 0.0016% (4/251338) total alleles studied. The highest observed frequency was 0.0035% (4/113650) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003565572 SCV004325351 pathogenic not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser114Valfs*60) in the COL17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL17A1 are known to be pathogenic (PMID: 16473856, 17344927, 20301304, 21357940, 24319098). This variant is present in population databases (rs766864711, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with COL17A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2211005). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005028339 SCV005662707 likely pathogenic Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 2024-06-18 criteria provided, single submitter clinical testing
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003314753 SCV004012853 pathogenic Amelogenesis imperfecta type 1A 2023-07-12 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004744636 SCV005348919 pathogenic COL17A1-related disorder 2024-08-26 no assertion criteria provided clinical testing The COL17A1 c.340delA variant is predicted to result in a frameshift and premature protein termination (p.Ser114Valfs*60). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Other predicted loss-of-function variants up- and downstream of this variant, including at least one variant within the same exon, have been reported in patients with epidermolysis bullosa (Human Gene Mutation Database; Vahidnezhad et al. 2019. PubMed ID: 29364557). Therefore, this variant is interpreted as pathogenic.

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