ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.737G>A (p.Trp246Ter)

dbSNP: rs1821176206
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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. RCV001263990 SCV001442088 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-12-25 criteria provided, single submitter clinical testing
Invitae RCV001263990 SCV001586374 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp246*) in the GALT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GALT-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.

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