Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248010 | SCV001421469 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with isoleucine at codon 336 of the GALT protein (p.Met336Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs770770917, ExAC 0.006%). This missense change has been observed in individual(s) with a positive newborn screening result for GALT-related disease (Invitae). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |