ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.203A>C (p.His68Pro) (rs193922247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029806 SCV000052461 uncertain significance not specified 2019-04-05 criteria provided, single submitter clinical testing Variant summary: GALT c.203A>C (p.His68Pro) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 246220 control chromosomes. To our knowledge, no occurrence of c.203A>C in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723445 SCV000227032 likely pathogenic not provided 2014-10-10 criteria provided, single submitter clinical testing

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