ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.510C>A (p.Ile170=)

gnomAD frequency: 0.00290  dbSNP: rs61735984
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400615 SCV000331218 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872897 SCV000479762 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-13 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.
Invitae RCV000872897 SCV001014788 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001698758 SCV001916708 benign not provided 2020-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27176039, 11919338)
CeGaT Center for Human Genetics Tuebingen RCV001698758 SCV002545673 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing GALT: BP4, BP7, BS2
Natera, Inc. RCV001276330 SCV001462502 benign Galactosemia 2020-05-30 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000400615 SCV001932262 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000400615 SCV001968598 benign not specified no assertion criteria provided clinical testing

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