ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.692G>A (p.Arg231His) (rs111033754)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000022185 SCV000826865 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 231 of the GALT protein (p.Arg231His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous or in combination with another GALT variant in individuals with low GALT enzyme activity (less than or equal to 10% of normal), findings that are highly specific for Galactose-1-phosphate uridylyltransferase deficiency (Pubmed: 7550229, 22944367, 27176039). ClinVar contains an entry for this variant (Variation ID: 25247). Experimental studies have shown that this missense change results in a GALT protein with absent enzyme activity (PMID: 7550229, 11152465, 25614870). A different missense substitution at this codon (p.Arg231Cys) has been determined to be pathogenic (PMID: 14518827, 22944367, 25814382, 25614870). This suggests that the arginine residue is critical for GALT protein function and that other missense substitutions at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022185 SCV000042867 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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