ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp) (rs773815805)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001293854 SCV001482515 uncertain significance COL7A1-related epidermolysis bullosa 2020-12-19 criteria provided, single submitter clinical testing The variant c.4720C>T (p.Arg1574Trp) of the COL7A1 gene is reported with an estimated allele frequency of 0.00005569 in gnomAD exomes, with no homozygous individuals reported. The nucleotide position is weakly conserved across 35 mammalian species (GERP RS: 0.78). In silico analysis gives inconsistent results. The variant is located at the last amino acid position of exon 48, however in silico analysis does not predict any significant impact on splicing.

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