ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.974C>T (p.Pro325Leu) (rs111033794)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022250 SCV000798721 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-03-22 criteria provided, single submitter clinical testing
Invitae RCV000022250 SCV000755884 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 325 of the GALT protein (p.Pro325Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs111033794, ExAC 0.009%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic GALT variants in individuals affected with galactosemia (PMID: 9222760, 10573007). In addition, it has been reported as homozygous or in combination with other GALT variants in individuals affected with galactosemia (PMID: 10573007, 22944367, 20213376). 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: 25305). Experimental studies have shown that this missense change impairs GALT enzyme activity in vitro (PMID: 10573007). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022250 SCV000042934 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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