ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.803C>A (p.Thr268Asn)

gnomAD frequency: 0.00002  dbSNP: rs111033847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002628891 SCV003516074 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-01-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 268 of the GALT protein (p.Thr268Asn). This variant is present in population databases (rs111033847, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of GALT-related conditions (PMID: 18210213). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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