ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.958G>A (p.Ala320Thr)

gnomAD frequency: 0.00001  dbSNP: rs111033795
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319347 SCV000340778 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000022243 SCV001396642 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-09-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs111033795, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosemia (PMID: 10220154, 10399107, 11397328, 16765930, 17876724, 25268296). ClinVar contains an entry for this variant (Variation ID: 25298). 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. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 320 of the GALT protein (p.Ala320Thr).
Baylor Genetics RCV000022243 SCV004198493 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-10-25 criteria provided, single submitter clinical testing
Counsyl RCV000022243 SCV000486401 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-05-25 no assertion criteria provided clinical testing
Natera, Inc. RCV001831603 SCV002085247 pathogenic Galactosemia 2017-03-17 no assertion criteria provided clinical testing

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