ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs111033790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 2023-09-17 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. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with galactosemia (PMID: 8598637). ClinVar contains an entry for this variant (Variation ID: 25291). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001826501 SCV002085246 pathogenic Galactosemia 2017-12-21 no assertion criteria provided clinical testing

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