Submissions for variant NM_000155.4(GALT):c.983G>A (p.Arg328His) (rs111033802)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Integrated Genetics/Laboratory Corporation of America	RCV000022254	SCV000919406	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-11-26	criteria provided, single submitter	clinical testing	Variant summary: GALT c.983G>A (p.Arg328His) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, C-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function, including one computational study that considers the Arg328 H-bond with Arg-51 essential for protein function (Facchiano_2009). The variant allele was found at a frequency of 4.1e-06 in 246246 control chromosomes (gnomAD). The variant, c.983G>A, has been reported in the literature in individuals affected with Galactosemia, including a homozygote (Ozgul_2013, Elsas_1998). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, with one lab calling it pathogenic in 2012. A different variant affecting the same codon, c.982C>T (p.Arg328Cys), was classified as likely pathogenic internally, suggesting this codon could play an important role in protein function. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV000022254	SCV001163251	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase		criteria provided, single submitter	clinical testing
Research and Development, ARUP Laboratories	RCV000022254	SCV000042938	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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