ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.598C>T (p.Gln200Ter) (rs1564101619)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781404 SCV000919405 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-04-24 criteria provided, single submitter clinical testing Variant summary: GALT c.598C>T (p.Gln200X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.610C>T, p.Arg204X; c.947G>A, p.Trp316X). The variant was absent in 121398 control chromosomes. To our knowledge, no occurrence of c.598C>T in individuals affected with 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 likely pathogenic.

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