ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.919T>A (p.Ser307Thr)

gnomAD frequency: 0.00093  dbSNP: rs61735983
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908301 SCV001053054 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000908301 SCV001331417 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV003480892 SCV004224255 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000908301 SCV005879302 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-05-15 criteria provided, single submitter clinical testing The GALT c.919T>A; p.Ser307Thr variant (rs61735983), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 733071). This variant is found in the African population with an allele frequency of 0.40% (100/24,954 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.592). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001276335 SCV001462507 uncertain significance Galactosemia 2017-05-09 no assertion criteria provided clinical testing

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