ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.796G>T (p.Glu266Ter)

dbSNP: rs1821178833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263991 SCV001442089 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001263991 SCV001584445 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant has not been reported in the literature in individuals with GALT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu266*) in the GALT gene. It is expected to result in an absent or disrupted protein product.

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