ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.572C>T (p.Ala191Val) (rs794727838)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723393 SCV000232013 likely pathogenic not provided 2015-05-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000179721 SCV000746383 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000179721 SCV000755880 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 191 of the GALT protein (p.Ala191Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GALT-related disease. ClinVar contains an entry for this variant (Variation ID: 198394). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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