ClinVar Miner

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

dbSNP: rs1564101619
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Total submissions: 3
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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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000781404 SCV001205862 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln200*) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 633236). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000781404 SCV005675414 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-06-22 criteria provided, single submitter clinical testing

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