ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.947G>A (p.Trp316Ter) (rs111033790)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022235 SCV000052479 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Counsyl RCV000022235 SCV000220344 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-05-22 criteria provided, single submitter literature only
Baylor Genetics RCV000022235 SCV001163249 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Invitae RCV000022235 SCV001222117 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp316*) 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 been observed in individual(s) with galactosemia (PMID: 8598637). ClinVar contains an entry for this variant (Variation ID: 25291). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022235 SCV000042918 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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