Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728335 | SCV000855892 | likely pathogenic | not provided | 2017-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862143 | SCV002283439 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-05-05 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function. This variant has been observed in individual(s) with galactosemia (PMID: 22944367). ClinVar contains an entry for this variant (Variation ID: 593326). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 97 of the GALT protein (p.Asn97Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. |