ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)

gnomAD frequency: 0.00147  dbSNP: rs114941150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730171 SCV000857888 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085325 SCV001012110 likely benign Peters plus syndrome 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085325 SCV001268798 uncertain significance Peters plus syndrome 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.
CeGaT Center for Human Genetics Tuebingen RCV000730171 SCV004132957 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing B3GLCT: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003928225 SCV004741736 likely benign B3GLCT-related disorder 2022-09-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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