ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.405G>A (p.Ser135=) (rs141232328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000347809 SCV000331211 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV000634558 SCV000755887 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-09-18 criteria provided, single submitter clinical testing This sequence change affects codon 135 of the GALT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GALT protein. This variant is present in population databases (rs141232328, ExAC 0.01%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with galactosemia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 281069). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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