ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.414G>T (p.Thr138=) (rs116479817)

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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 RCV000312319 SCV000331015 benign not specified 2015-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586709 SCV000695692 likely benign not provided 2017-02-01 criteria provided, single submitter clinical testing Variant summary: The GALT c.414G>T (p.Thr138Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant, while 1/5 splice prediction tools predict the variant to create a splice donor site. Additionally, ESE finder predicts the creation of SRp40 binding site. However, these predictions are yet to be confirmed by functional studies. This variant was found in 66/121340 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.006255 (65/10392). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic GALT variant (0.0028868), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as likely benign.
Invitae RCV001085244 SCV001015389 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-11-26 criteria provided, single submitter clinical testing

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