ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.945T>C (p.His315=)

gnomAD frequency: 0.03311  dbSNP: rs61735982
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078244 SCV000110082 benign not specified 2018-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078244 SCV000302735 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000029823 SCV000479770 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000078244 SCV000513103 benign not specified 2016-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000029823 SCV000603784 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029823 SCV000631398 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000029823 SCV002811857 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001356490 SCV005272558 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029823 SCV000052478 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2010-08-16 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356490 SCV001551676 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001826521 SCV002085245 benign Galactosemia 2017-03-29 no assertion criteria provided clinical testing

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