ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.820+13A>G (rs111033768)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723491 SCV000331164 pathogenic not provided 2017-07-03 criteria provided, single submitter clinical testing
Mendelics RCV000022211 SCV001137805 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000022211 SCV001222162 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-04-12 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the GALT gene. It does not directly change the encoded amino acid sequence of the GALT protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with galactosemia (PMID: 25052314, 23749220). ClinVar contains an entry for this variant (Variation ID: 25269). Experimental studies have shown that this intronic change disrupts GALT RNA splicing in vitro (PMID: 25052314). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022211 SCV000042893 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.
Counsyl RCV000022211 SCV000486157 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-04-07 no assertion criteria provided clinical testing

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