ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.938G>A (p.Trp313Ter)

gnomAD frequency: 0.00001  dbSNP: rs1410159094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666311 SCV000790582 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666311 SCV000814509 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp313*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551291). This premature translational stop signal has been observed in individual(s) with galactosemia (PMID: 22944367).
Baylor Genetics RCV000666311 SCV004198548 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-04-11 criteria provided, single submitter clinical testing

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