ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.428C>T (p.Ser143Leu) (rs111033697)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000022111 SCV001163237 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Invitae RCV000022111 SCV001394641 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 143 of the GALT protein (p.Ser143Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs111033697, ExAC 0.006%). This variant has been observed in individual(s) with galactosemia (PMID: 9222760, 22944367). ClinVar contains an entry for this variant (Variation ID: 37358). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000022111 SCV000042789 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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