ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)

dbSNP: rs2531155675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003149560 SCV003806432 uncertain significance Recessive dystrophic epidermolysis bullosa 2023-02-28 criteria provided, single submitter clinical testing A homozygous missense variation in exon 39 of the COL7A1 gene that results in the amino acid substitution of Threonine for Proline at codon 1413 (p.Pro1413_Gly1414delinsThrAsp) was detected. This variant has not been reported in the 1000 genomes, gnomAD databases. The in silico prediction of the variant is damaging by LRT. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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