ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.377+1G>T

dbSNP: rs111033681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250222 SCV001424426 pathogenic Galactosemia criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003159557 SCV003853544 pathogenic not provided 2021-06-09 criteria provided, single submitter clinical testing PVS1, PS4_moderate, PM2, PP4
Invitae RCV003502509 SCV004294294 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with galactosemia (PMID: 10573007, 31194895; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25164). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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