ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)

gnomAD frequency: 0.00083  dbSNP: rs114670807
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147257 SCV000194628 uncertain significance CHIME syndrome 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147257 SCV000896593 uncertain significance CHIME syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000872104 SCV001013870 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000147257 SCV001286645 uncertain significance CHIME syndrome 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.
PreventionGenetics, part of Exact Sciences RCV003917453 SCV004730696 likely benign PIGL-related condition 2022-08-01 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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