ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.203A>C (p.His68Pro)

dbSNP: rs193922247
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029806 SCV000052461 uncertain significance not specified 2019-04-05 criteria provided, single submitter clinical testing Variant summary: GALT c.203A>C (p.His68Pro) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 246220 control chromosomes. To our knowledge, no occurrence of c.203A>C in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS.
Eurofins Ntd Llc (ga) RCV000723445 SCV000227032 likely pathogenic not provided 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV001852594 SCV002234604 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-10-29 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 68 of the GALT protein (p.His68Pro). This variant is present in population databases (rs193922247, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 36143). 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.
Natera, Inc. RCV001826519 SCV002085184 uncertain significance Galactosemia 2018-08-16 no assertion criteria provided clinical testing

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