ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.564+7G>A

gnomAD frequency: 0.00001  dbSNP: rs760189807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000725562 SCV000337811 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000397513 SCV000727873 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000397513 SCV000917411 uncertain significance not specified 2018-03-26 criteria provided, single submitter clinical testing Variant summary: GALT c.564+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was observed with an allele frequency of 8.1e-06 in 246242 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in GALT causing Galactosemia (8.1e-06 vs 0.0029), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.564+7G>A in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) classifies the variant as "uncertain significance." Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001503388 SCV001708243 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-10-08 criteria provided, single submitter clinical testing

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