ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.507+5G>A

dbSNP: rs886043775
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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) RCV000327271 SCV000341963 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Invitae RCV001859672 SCV002282847 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-12-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 287990). This variant has been observed in individual(s) with galactosemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the GALT gene. It does not directly change the encoded amino acid sequence of the GALT protein. It affects a nucleotide within the consensus splice site.

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