ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.775C>T (p.Arg259Trp) (rs786204763)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169625 SCV000221153 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-02-24 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723394 SCV000232473 pathogenic not provided 2015-06-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169625 SCV001163244 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Invitae RCV000169625 SCV001579739 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 259 of the GALT protein (p.Arg259Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with galactose-1-phosphate uridyltransferase deficiency (PMID: 8741038, 25268296, 22944367, 23749220). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 189191). This variant has been reported to affect GALT protein function (PMID: 11152465). This variant disrupts the p.Arg259 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 22461411), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000723394 SCV001771445 pathogenic not provided 2021-01-27 criteria provided, single submitter clinical testing Functional analysis found R259W is associated with significantly reduced GALT enzyme activity (Riehman et al., 2001); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 8741038, 10408771, 31194252, 17041746, 20008339, 11152465, 31194895, 11261429, 23749220)

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