ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) (rs149267939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523251 SCV000616683 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing The P1940L variant in the COL7A1 gene has been reported previously in an individual with recessive dystrophic epidermolysis bullosa, but this individual also carried another variant on the same COL7A1 allele (in cis) in addition to a variant on the opposite COL7A1 allele (in trans) (Varki et al., 2007). The P1940L variant is observed in 13/6,508 (0.2%) and 85/65,910 (0.1%) alleles from individuals of Finnish and non-Finnish European background, respectively, in the ExAC dataset (Lek et al., 2016). The P1940L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P1940L as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000523251 SCV000986926 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08/01/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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