ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.610C>T (p.Arg204Ter) (rs111033737)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022164 SCV000220666 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-09-03 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723395 SCV000202785 pathogenic not provided 2014-04-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000022164 SCV000052470 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000022164 SCV000818515 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg204*) in the GALT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs111033737, ExAC 0.003%). This variant has been reported as homozygous or in combination with other variants in the GALT gene in several individuals affected with galactosemia (PMID: 12595586, 17041746, 18210213, 19224951, 19375122, 20213376, 22944367). ClinVar contains an entry for this variant (Variation ID: 25228). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022164 SCV000042846 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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