ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.556C>A (p.His186Asn)

dbSNP: rs111033725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508125 SCV000603786 likely pathogenic not specified 2016-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857269 SCV002108105 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-04-06 criteria provided, single submitter clinical testing 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. This variant disrupts the p.His186 amino acid residue in GALT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22944367, 20547145, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with clinical features of GALT-related conditions (PMID: 17486650). ClinVar contains an entry for this variant (Variation ID: 439749). This sequence change replaces histidine with asparagine at codon 186 of the GALT protein (p.His186Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency).

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