Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022164 | SCV000052470 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2020-08-20 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.610C>T (p.Arg204X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 251502 control chromosomes (gnomAD and publication data). c.610C>T has been reported in the literature in multiple individuals affected with Galactosemia (Tyfield_1999, Webb_2003, Gort_2006, Chhay_2008, Carney_2009). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal GLAT activity (Chhay_2008). One ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Eurofins Ntd Llc |
RCV000723395 | SCV000202785 | pathogenic | not provided | 2014-04-23 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000022164 | SCV000220666 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2014-09-03 | criteria provided, single submitter | literature only | |
Invitae | RCV000022164 | SCV000818515 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-08-30 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 25228). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg204*) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is present in population databases (rs111033737, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with galactosemia (PMID: 12595586, 17041746, 18210213, 19224951, 19375122, 20213376, 22944367). |
Baylor Genetics | RCV000022164 | SCV004198512 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831599 | SCV002085221 | pathogenic | Galactosemia | 2017-11-29 | no assertion criteria provided | clinical testing |