ClinVar Miner

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

dbSNP: rs111033836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726020 SCV000341275 pathogenic not provided 2016-04-18 criteria provided, single submitter clinical testing
Counsyl RCV000022052 SCV000798041 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022052 SCV000938537 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-01-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 34 of the GALT protein (p.Tyr34Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with classic galactosemia (PMID: 22461411, 25592817). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25125). 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. Experimental studies have shown that this missense change affects GALT function (PMID: 22461411, 25592817). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000022052 SCV001137801 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing

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