ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.252+1G>A

gnomAD frequency: 0.00001  dbSNP: rs768154316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004540 SCV001163608 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004540 SCV001580907 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-06-27 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with classical galactosemia (PMID: 21150919). ClinVar contains an entry for this variant (Variation ID: 813466). This sequence change affects a donor splice site in intron 2 of the GALT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs768154316, ExAC 0.01%). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 21150919). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV004792610 SCV005413869 pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing PP4, PM2, PM3, PVS1
Natera, Inc. RCV001836062 SCV002085187 pathogenic Galactosemia 2020-01-19 no assertion criteria provided clinical testing

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