ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.91C>A (p.His31Asn) (rs111033643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000585998 SCV000695709 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The GALT c.91C>A (p.His31Asn) variant involves the alteration of a conserved nucleotide. His31 is highly conserved across species and is located in the Galactose-1-phosphate uridyl transferase, N-terminal domain and histidine triad motif (HIT)-like domain. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was absent in 121362 control chromosomes. One clinical diagnostic laboratory classified this variant as pathogenic without providing evidence. Another missense change at this same position, p.H31R, has been reported as pathogenic (via HGMD) in a galactosemia patient reported in the literature (PMID: 20547145), suggesting H31 is critical for the normal function of GALT protein and that it is a mutational hot spot. However, only one patient has been identified to carry this variant and no functional study was available at the time of variant classification. Taken together, this variant is classified as VUS-possibly pathogenic until additional patients and/or functional studies are available.
Research and Development, ARUP Laboratories RCV000022049 SCV000042724 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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