Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652909 | SCV000774781 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2019-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with asparagine at codon 595 of the COL12A1 protein (p.His595Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs370544100, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL12A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |