Submissions for variant NM_032520.5(GNPTG):c.741+5C>T

gnomAD frequency: 0.00183  dbSNP: rs201263537

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000278681	SCV000394957	uncertain significance	GNPTG-mucolipidosis	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	RCV000974796	SCV001122662	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000974796	SCV001149642	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000974796	SCV001716250	uncertain significance	not provided	2019-05-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000278681	SCV002045551	likely benign	GNPTG-mucolipidosis	2021-11-07	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000278681	SCV001457251	benign	GNPTG-mucolipidosis	2019-10-28	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000974796	SCV002034341	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000974796	SCV002038050	likely benign	not provided		no assertion criteria provided	clinical testing