ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.502G>T (p.Val168Leu)

dbSNP: rs367543258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022125 SCV000220506 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-07-11 criteria provided, single submitter literature only
Invitae RCV000022125 SCV001236618 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-05-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 168 of the GALT protein (p.Val168Leu). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GALT function (PMID: 22461411). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function. ClinVar contains an entry for this variant (Variation ID: 25189). This missense change has been observed in individual(s) with galactosemia (PMID: 22461411, 24045215). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV000022125 SCV004198496 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826494 SCV002085213 likely pathogenic Galactosemia 2021-08-26 no assertion criteria provided clinical testing

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