ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.904+1G>T

dbSNP: rs367543271
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723500 SCV000110079 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000032013 SCV001405489 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-09-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a donor splice site in intron 9 of the GALT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is present in population databases (rs367543271, gnomAD 0.006%). Disruption of this splice site has been observed in individuals with galactosemia (PMID: 28173647, 29653003). ClinVar contains an entry for this variant (Variation ID: 38554). For these reasons, this variant has been classified as Pathogenic.
Suma Genomics RCV000032013 SCV002096998 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000032013 SCV002801162 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-08-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000032013 SCV004198536 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-12-15 criteria provided, single submitter clinical testing
Lifecell International Pvt. Ltd RCV000032013 SCV001478350 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase no assertion criteria provided clinical testing This variant presents in intron 9 of the GALT gene results affects a donor splice site. These Null variant (intronic within ±2 of splice site), for which loss-of-function is associated with Galactosemiamechanism of disease. This variant was observed in a proband with increased GALT enzyme level (>47.6 mg/dL) which was screened for advanced newborn screening with confirmatory genetic reflex testing at lifecell diagnostics. The reference base is conserved across the species and in-silico predictions by Polyphen and SIFT are damaging. This variant has been observed in individual(s) with galactosemia (PMID: 28173647, 29653003).

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