ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.377+53_1059+87del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022096 SCV000917412 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The GALT c.377+53_1059+87del variant involves the deletion of exons 5-10 and is predicted to result in frameshift. This may cause a truncated or absent GALT protein due to nonsense mediated decay, which is commonly known mechanisms for disease. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, ESP, 1000G) cannot detect duplications this large. This variant has been reported in one galactosemia family and is absent in 100 control chromosomes (Gort_2006). In addition, one other clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Research and Development, ARUP Laboratories RCV000022096 SCV000042772 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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