ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.905-2A>G

dbSNP: rs398123187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078242 SCV000110080 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
Invitae RCV002513821 SCV003219645 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-07-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 92524). 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 affects an acceptor 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).

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