ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.396C>A (p.His132Gln) (rs367543256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723453 SCV000331067 likely pathogenic not provided 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV000022103 SCV001230380 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-06-04 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 132 of the GALT protein (p.His132Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with galactosemia (PMID: 22461411, 22944367, 28649529, Invitae). ClinVar contains an entry for this variant (Variation ID: 25170). This variant has been reported to affect GALT protein function (PMID: 22461411). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022103 SCV000042779 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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