Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000022265 | SCV001230116 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-13 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with galactosemia (PMID: 11919338). ClinVar contains an entry for this variant (Variation ID: 25319). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 342 of the GALT protein (p.Leu342Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. |