ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) (rs111033836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022052 SCV000798041 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-02-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726020 SCV000341275 pathogenic not provided 2016-04-18 criteria provided, single submitter clinical testing
Invitae RCV000022052 SCV000938537 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 34 of the GALT protein (p.Tyr34Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another GALT variant in an individual affected with classic galactosemia, and has been shown on the opposite chromosome (in trans) from a pathogenic variant in an affected individual (PMID: 22461411, 25592817). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 25125). Experimental studies have shown that this missense change impairs enzyme activity (PMID: 22461411, 25592817). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022052 SCV000042727 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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