ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.307C>T (p.Gln103Ter)

gnomAD frequency: 0.00001  dbSNP: rs1225091358
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726851 SCV000703632 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000595136 SCV004198555 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-01-08 criteria provided, single submitter clinical testing
Invitae RCV000595136 SCV004627450 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-04-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GALT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln103*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 498560).
Counsyl RCV000595136 SCV000796713 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-12-22 no assertion criteria provided clinical testing

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