ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1132A>G (p.Ile378Val) (rs111033819)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507865 SCV000603800 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing
Counsyl RCV000022280 SCV000800504 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000022280 SCV000965232 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 378 of the GALT protein (p.Ile378Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs111033819, ExAC 0.02%). This variant has been observed in an individual affected with galactosemia (PMID: 11678552). ClinVar contains an entry for this variant (Variation ID: 25334). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Research and Development, ARUP Laboratories RCV000022280 SCV000042965 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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